Canonical Allele Identifier: PA1139683733
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 871794
ClinVar RCV Id: RCV001091941

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu1650Lys
CA957422
NM_000350.3:c.4948G>A