Canonical Allele Identifier: PA226939
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99089
ClinVar RCV Id: RCV000085433

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Phe608Leu
CA226938
NM_000350.3:c.1822T>C
CA341279574
NM_000350.3:c.1824T>G
CA341279576
NM_000350.3:c.1824T>A