Canonical Allele Identifier: PA235749
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 190984
ClinVar RCV Id: RCV000171155
ClinVar Variation Id: 1480040
ClinVar RCV Id: RCV002021962
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Trp1618Arg
CA235748
NM_000350.3:c.4852T>A
CA341283239
NM_000350.3:c.4852T>C