Allele Registry

Canonical Allele Identifier: PA645441122

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

237639

ClinVar RCV:

RCV000408493

RCV001197194

ClinVar Variation:

236142

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Thr1981Arg	CA10602412 NM_000350.3:c.5942C>G