Allele Registry

Canonical Allele Identifier: PA096571

Gene: ABCA4 HGNC NCBI

ClinVar Allele:

22951

ClinVar RCV:

RCV000008373

RCV000778999

RCV000994036

RCV001073346

RCV003317029

ClinVar Variation:

7912

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Pro1780Ala	CA340713 NM_000350.3:c.5338C>G