Allele Registry

Canonical Allele Identifier: PA227314

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085734

RCV000408577

ClinVar Variation:

99380

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.His1838Asp	CA227313 NM_000350.3:c.5512C>G