Canonical Allele Identifier: PA127678
Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17967
ClinVar RCV Id: RCV000019567 RCV000019594 RCV000019595 RCV000148877 RCV000194811 RCV000255454 RCV000623762 RCV001195107 RCV002054450 RCV002251912 RCV002276567 RCV003415721 RCV002466247
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121173.1:p.Glu366Lys
CA127676
NM_001127701.2:c.1096G>A
CA913203354
NM_001127701.2:c.[1096G>A;35T>C]