Canonical Allele Identifier: PA915962611
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133204
ClinVar RCV Id: RCV000119715 RCV000210012 RCV001350615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro2496Leu
CA024807
NM_001042723.2:c.7487C>T