Canonical Allele Identifier: PA095895
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 30218
ClinVar RCV Id: RCV000023141 RCV000085574 RCV000504768 RCV001073572
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu1122Lys
CA227113
NM_000350.3:c.3364G>A