Canonical Allele Identifier: PA227256
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99332
ClinVar RCV Id: RCV000085685 RCV000787506 RCV000986355 RCV001075879
ClinVar Variation Id: 1013244
ClinVar RCV Id: RCV001311640
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Ser1642Arg
CA227255
NM_000350.3:c.4926C>G
CA341283078
NM_000350.3:c.4926C>A
CA341283083
NM_000350.3:c.4924A>C