Allele Registry

Canonical Allele Identifier: PA2826862949

Gene: AP2S1 HGNC NCBI

ClinVar RCV:

RCV000032621

RCV000520417

ClinVar Variation:

39426

HGVS (amino-acid)	Matching Registered Transcripts
NP_001288007.1:p.Arg15His	CA130283 NM_001301078.2:c.44G>A