Allele Registry

Canonical Allele Identifier: PA645510955

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000505087

RCV000658516

ClinVar Variation:

438086

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Tyr340His	CA26870533 NM_000350.3:c.1018T>C