Canonical Allele Identifier: PA096064
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99070
ClinVar RCV Id: RCV000085413 RCV000778263 RCV000782281 RCV000761253 RCV001074836 RCV000763048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly550Arg
CA226915
NM_000350.3:c.1648G>A
CA341280333
NM_000350.3:c.1648G>C