Allele Registry

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Canonical Allele Identifier: PA1139729683

Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 975833

ClinVar RCV Id: RCV001252955 RCV003222276 RCV003770311

ClinVar Variation Id: 1334232

ClinVar RCV Id: RCV001813647 RCV001869614

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_005179.2:p.Cys416Ser	CA6318482 NM_005188.3:c.1247G>C CA382913759 NM_005188.3:c.1246T>A