Canonical Allele Identifier: PA096563
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99368
ClinVar RCV Id: RCV000085722
ClinVar Variation Id: 431947
ClinVar RCV Id: RCV000497807 RCV003324528
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Pro1776Leu
CA227300
NM_000350.3:c.5327_5328delinsTG
CA341281507
NM_000350.3:c.5327C>T