Allele Registry

Canonical Allele Identifier: PA2573167282

Gene: ABCA4 HGNC NCBI

ClinVar RCV:

RCV001882250

ClinVar Variation:

1392712

HGVS (amino-acid)	Matching Registered Transcripts
NP_000341.2:p.Leu1970Ile	CA341279712 NM_000350.3:c.5908C>A