Allele Registry

Canonical Allele Identifier: PA2580173099

Gene: ARPIN-AP3S2 HGNC NCBI

ClinVar Allele:

2384794

ClinVar RCV:

RCV004232556

ClinVar Variation:

2393161

HGVS (amino-acid)	Matching Registered Transcripts
NP_001185987.1:p.Gln341His	CA274606579 NM_001199058.2:c.1023G>C CA393769563 NM_001199058.2:c.1023G>T