Canonical Allele Identifier: PA915962329
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544383
ClinVar RCV Id: RCV000655505 RCV003231567 RCV001508857
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Tyr1711Cys
CA066692
NM_001042723.2:c.5132A>G