Allele Registry

Canonical Allele Identifier: PA1139682484

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV001073459

ClinVar Variation:

865894

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Val931Leu	CA26840893 NM_000350.3:c.2791G>T CA341275532 NM_000350.3:c.2791G>C