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: PA2825657177

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17978

ClinVar RCV Id: RCV000019583

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121177.1:p.Leu377Phe	CA127705 NM_001127705.2:c.1131A>T CA390847732 NM_001127705.2:c.1131A>C