Canonical Allele Identifier: PA096072
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99087
ClinVar RCV Id: RCV000085431 RCV000408475 RCV000787762 RCV001075859
ClinVar Variation Id: 522787
ClinVar RCV Id: RCV000625951 RCV001239085
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000341.2:p.Gly607Arg
CA226936
NM_000350.3:c.1819G>A
CA341279593
NM_000350.3:c.1819G>C