Canonical Allele Identifier: PA096110
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99135
ClinVar RCV Id: RCV000085479 RCV000787774 RCV001075477 RCV002250561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly818Glu
CA227000
NM_000350.3:c.2453G>A