Canonical Allele Identifier: PA1139684827
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 948653
ClinVar RCV Id: RCV001219955

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu2232Lys
CA956824
NM_000350.3:c.6694G>A