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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:
CA1882777276
Gene: DBH
HGNC
NCBI
Linked Data
dbSNP Id:
rs1832157836
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133644432C>A , CM000671.2:g.133644432C>A
GRCh38
NC_000009.11:g.136509554C>A , CM000671.1:g.136509554C>A
GRCh37
NC_000009.10:g.135499375C>A
NCBI36
NG_008645.1:g.13070C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000393056.8:c.1024+112C>A
MANE Select
ENSP00000376776.2:n.1024+112C>A
ENST00000393056.6:c.1024+112C>A
ENSP00000376776.2:n.1024+112C>A
NM_000787.3:c.1024+112C>A
NP_000778.3:n.1024+112C>A
NM_000787.4:c.1024+112C>A
MANE Select
NP_000778.3:n.1024+112C>A
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