Canonical Allele Identifier: PA915962413
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544517
ClinVar RCV Id: RCV000721605 RCV001127338 RCV001127339 RCV001087847 RCV001592839 RCV003488776
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2101Lys
CA068024
NM_001042723.2:c.6302T>A