Canonical Allele Identifier: PA119147
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 7913
ClinVar RCV Id: RCV000008374 RCV000008375 RCV000085512 RCV000152706 RCV000294335 RCV000349295 RCV000392936 RCV000399411 RCV001002837 RCV001101950 RCV003887858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Arg943Gln
CA119146
NM_000350.3:c.2828G>A