Canonical Allele Identifier: PA096382
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99433
ClinVar RCV Id: RCV000085792 RCV002490744
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Leu2060Arg
CA227373
NM_000350.3:c.6179T>G