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: PA2580136050

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2490100

ClinVar RCV Id: RCV003220183

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121179.1:p.Ile380Thr	CA390847709 NM_001127707.2:c.1139T>C