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: PA2825657258

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17992

ClinVar RCV Id: RCV000019608 RCV000169508

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121178.1:p.Ser77Phe	CA127738 NM_001127706.2:c.230C>T