Canonical Allele Identifier: PA241136
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 194919
ClinVar RCV Id: RCV000175396
ClinVar Variation Id: 2709172
ClinVar RCV Id: RCV003547879

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly968Arg
CA241135
NM_000350.3:c.2902G>A
CA341275315
NM_000350.3:c.2902G>C