Allele Registry

Canonical Allele Identifier: PA645439897

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

405265

ClinVar RCV:

RCV000486363

RCV001074372

ClinVar Variation:

417981

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Tyr603His	CA16617211 NM_000350.3:c.1807T>C