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: PA645467147

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393473

ClinVar RCV Id: RCV000597384 RCV000512621

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121173.1:p.Gly172Arg	CA7327479 NM_001127701.2:c.514G>A CA390849579 NM_001127701.2:c.514G>C