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: PA325645

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17961

ClinVar RCV Id: RCV000019561 RCV000151833 RCV000148879 RCV000622899 RCV000727618

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121175.1:p.Arg247Cys	CA325638 NM_001127703.2:c.739C>T CA353866 NM_001127703.2:c.[739C>T;187C>T]