Allele Registry

Canonical Allele Identifier: PA645440531

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000306201

RCV000345844

RCV000358611

RCV000408394

RCV000603618

RCV001074568

RCV001098066

RCV001515591

ClinVar Variation:

298239

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Met1419Thr	CA957663 NM_000350.3:c.4256T>C