Canonical Allele Identifier: PA2826862911
Gene: AP2S1 HGNC NCBI

Linked Data

ClinVar Variation Id: 450031
ClinVar RCV Id: RCV000523584
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288005.1:p.Leu117Pro
CA406507996
NM_001301076.2:c.350T>C