Allele Registry

Canonical Allele Identifier: PA227136

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085592

RCV000408481

RCV001075720

RCV001101851

RCV003317087

ClinVar Variation:

99239

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr1253Met	CA227135 NM_000350.3:c.3758C>T