Allele Registry

Canonical Allele Identifier: PA095315

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

22938

ClinVar RCV:

RCV000008356

RCV000085719

RCV001075717

ClinVar Variation:

7899

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg18Trp	CA227296 NM_000350.3:c.52C>T