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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:
CA1479953085
Gene: ADH1B
HGNC
NCBI
Linked Data
dbSNP Id:
rs1734036948
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.99321731dup , CM000666.2:g.99321731dup
GRCh38
NC_000004.11:g.100242888dup , CM000666.1:g.100242888dup
GRCh37
NC_000004.10:g.100461911dup
NCBI36
NG_011435.1:g.4685dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000639454.1:c.19-2845dup
ENSP00000491622.1:n.19-2845dup
Search 100 bp 5'
Search 100 bp 3'