Allele Registry

Canonical Allele Identifier: PA345717

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000132589

ClinVar Variation:

143074

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Asn933Ile	CA345716 NM_000350.3:c.2798A>T