Allele Registry

Canonical Allele Identifier: PA2829612260

Gene: AP3S2 HGNC NCBI

ClinVar Allele:

2384794

ClinVar RCV:

RCV004232556

ClinVar Variation:

2393161

HGVS (amino-acid)	Matching Registered Transcripts
NP_005820.1:p.Gln140His	CA274606579 NM_005829.5:c.420G>C CA393769563 NM_005829.5:c.420G>T