Allele Registry

Canonical Allele Identifier: PA645441001

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000421632

RCV002289547

RCV002480281

RCV003224874

ClinVar Variation:

377406

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Tyr1858Asn	CA957222 NM_000350.3:c.5572T>A