Allele Registry

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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