Canonical Allele Identifier: PA2580110081
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1966191
ClinVar RCV Id: RCV002716382

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Ser2054Ile
CA341278369
NM_000350.3:c.6161G>T