Allele Registry

Canonical Allele Identifier: PA095350

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

105327

ClinVar RCV:

RCV000085797

RCV000402409

RCV000504630

RCV000787519

RCV001004998

RCV001770079

ClinVar Variation:

99438

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Arg2077Trp	CA227380 NM_000350.3:c.6229C>T