Allele Registry

Canonical Allele Identifier: PA239746

Gene: ABCA4 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000174239

RCV000286087

RCV000343411

RCV000378123

RCV000390005

RCV000408576

RCV000416079

RCV001075051

RCV001100050

ClinVar Variation:

193990

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Val552Ile	CA239745 NM_000350.3:c.1654G>A