Allele Registry

Canonical Allele Identifier: PA645510975

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000505135

ClinVar Variation:

438103

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Phe1839Ser	CA341281100 NM_000350.3:c.5516T>C