Canonical Allele Identifier: PA915961756
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 801518
ClinVar RCV Id: RCV000986370 RCV001002841 RCV001858641
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Glu616Lys
CA341279484
NM_000350.3:c.1846G>A