Allele Registry

Canonical Allele Identifier: PA227256

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085685

RCV000787506

RCV000986355

RCV001075879

RCV001311640

ClinVar Variation:

99332

1013244

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Ser1642Arg	CA227255 NM_000350.3:c.4926C>G CA341283078 NM_000350.3:c.4926C>A CA341283083 NM_000350.3:c.4924A>C