Canonical Allele Identifier: PA2826862992
Gene: AP2S1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450031
ClinVar RCV Id: RCV000523584

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288007.1:p.Leu115Pro
CA406507996
NM_001301078.2:c.344T>C