Canonical Allele Identifier: PA915962391
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329043
ClinVar RCV Id: RCV000272082 RCV000307113 RCV000397620 RCV000512722 RCV000535360 RCV000364152
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2008Thr
CA067690
NM_001042723.2:c.6023T>C