Allele Registry

Canonical Allele Identifier: PA226927

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV000085424

RCV000408487

ClinVar Variation:

99080

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Pro597Ser	CA226926 NM_000350.3:c.1789C>T