Canonical Allele Identifier: PA915962423
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93280
ClinVar RCV Id: RCV000079157 RCV002490686 RCV002515759 RCV003997199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2120Thr
CA024569
NM_001042723.2:c.6359T>C