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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2692393572
Gene: DBH
HGNC
NCBI
Linked Data
gnomAD v4:
9-133644425-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133644425_133644426insG , CM000671.2:g.133644425_133644426insG
GRCh38
NC_000009.11:g.136509547_136509548insG , CM000671.1:g.136509547_136509548insG
GRCh37
NC_000009.10:g.135499368_135499369insG
NCBI36
NG_008645.1:g.13063_13064insG
Transcript Alleles
HGVS
Amino-acid change
ENST00000393056.8:c.1024+105_1024+106insG
MANE Select
ENSP00000376776.2:n.1024+105_1024+106insG
ENST00000393056.6:c.1024+105_1024+106insG
ENSP00000376776.2:n.1024+105_1024+106insG
NM_000787.3:c.1024+105_1024+106insG
NP_000778.3:n.1024+105_1024+106insG
NM_000787.4:c.1024+105_1024+106insG
MANE Select
NP_000778.3:n.1024+105_1024+106insG
Search 100 bp 5'
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