Canonical Allele Identifier: PA127673
Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17965
ClinVar RCV Id: RCV000019565 RCV000409001 RCV000727230 RCV002336088 RCV003944831
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121179.1:p.Pro393Leu
CA127662
NM_001127707.2:c.1178C>T
CA645582231
NM_001127707.2:c.1178_1179delinsTT