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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:
CA2576530728
Gene: GALR1
HGNC
NCBI
Linked Data
gnomAD v4:
18-77268539-ACCG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268542_77268544del , CM000680.2:g.77268542_77268544del
GRCh38
NC_000018.9:g.74980498_74980500del , CM000680.1:g.74980498_74980500del
GRCh37
NC_000018.8:g.73109486_73109488del
NCBI36
NG_009223.1:g.23491_23493del
Transcript Alleles
HGVS
Amino-acid change
ENST00000299727.5:c.733-43_733-41del
MANE Select
ENSP00000299727.3:n.733-43_733-41del
ENST00000299727.4:c.733-43_733-41del
ENSP00000299727.3:n.733-43_733-41del
NM_001480.3:c.733-43_733-41del
NP_001471.2:n.733-43_733-41del
NM_001480.4:c.733-43_733-41del
MANE Select
NP_001471.2:n.733-43_733-41del
Search 100 bp 5'
Search 100 bp 3'