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: PA2825245250

Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2490100

ClinVar RCV Id: RCV003220183

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001002235.1:p.Ile380Thr	CA390847709 NM_001002235.3:c.1139T>C