Canonical Allele Identifier: PA1139682096
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 865765
ClinVar RCV Id: RCV001073242 RCV001862489
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Leu751Pro
CA341277922
NM_000350.3:c.2252T>C