Canonical Allele Identifier: PA127681
Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17969
ClinVar RCV Id: RCV000019569 RCV000148878 RCV000177031 RCV000762932 RCV000991136 RCV001195102 RCV002466248 RCV002371777 RCV003415722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121173.1:p.Glu288Val
CA127679
NM_001127701.2:c.863A>T
CA645511342
NM_001127701.2:c.[863A>T;602A>G]
CA645511343
NM_001127701.2:c.[863A>T;190C>A]