Canonical Allele Identifier: PA2573166678
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1371589
ClinVar RCV Id: RCV001879070
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Cys748Arg
CA341277945
NM_000350.3:c.2242T>C