Allele Registry

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Canonical Allele Identifier: PA2825422129

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133040

ClinVar RCV Id: RCV000119464 RCV001450005 RCV003993811 RCV003591680

ClinVar Variation Id: 1071064

ClinVar RCV Id: RCV001383437 RCV001580405

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.Val4229Leu	CA024001 NM_001042723.2:c.12685G>C CA405670953 NM_001042723.2:c.12685G>T