Canonical Allele Identifier: PA645456346
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 436627
ClinVar RCV Id: RCV000504175 RCV000721749 RCV001221339 RCV001829435 RCV004003530 RCV003992308
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gly3191Arg
CA073816
NM_000540.3:c.9571G>A
CA405690024
NM_000540.3:c.9571G>C