Canonical Allele Identifier: PA645439923
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 288341
ClinVar RCV Id: RCV000329208 RCV000478104 RCV001074658
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Val675Ile
CA958364
NM_000350.3:c.2023G>A