Allele Registry

Canonical Allele Identifier: PA645440967

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000256375

RCV001859496

ClinVar Variation:

265997

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Met1778Lys	CA10588919 NM_000350.3:c.5333T>A