Canonical Allele Identifier: PA325646
Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17961
ClinVar RCV Id: RCV000019561 RCV000151833 RCV000148879 RCV000622899 RCV000727618
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121176.1:p.Arg247Cys
CA325638
NM_001127704.2:c.739C>T
CA353866
NM_001127704.2:c.[739C>T;187C>T]