Allele Registry

Canonical Allele Identifier: PA645439938

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000483929

ClinVar Variation:

417984

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu750Pro	CA16617209 NM_000350.3:c.2249T>C