Allele Registry

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.

Canonical Allele Identifier: PA093866

Gene: CHRNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18382

ClinVar RCV Id: RCV000020050

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034612.1:p.Val330Ile	CA128076 NM_001039523.3:c.988G>A