Allele Registry

Canonical Allele Identifier: PA252482

Gene: ABCA12 HGNC NCBI

ClinVar RCV:

RCV000002995

RCV000250672

RCV000293292

RCV002054411

RCV002490301

ClinVar Variation:

2861

HGVS (amino-acid)	Matching Registered Transcripts
NP_056472.2:p.Asp2047Asn	CA252481 NM_015657.4:c.6139G>A