Canonical Allele Identifier: PA096103
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99120
ClinVar RCV Id: RCV000085464 RCV000787776 RCV001000882 RCV001353042 RCV002466250
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly72Arg
CA226983
NM_000350.3:c.214G>A
CA341285536
NM_000350.3:c.214G>C