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: PA2825656682

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17987

ClinVar RCV Id: RCV000201851 RCV000019602 RCV000019601

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121176.1:p.Ile116Asn	CA127736 NM_001127704.2:c.347T>A