Allele Registry

Canonical Allele Identifier: PA645440985

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

237648

ClinVar RCV:

RCV000408514

RCV003556287

ClinVar Variation:

236133

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.His1838Asn	CA10602418 NM_000350.3:c.5512C>A