Canonical Allele Identifier: PA2825423032
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133083
ClinVar RCV Id: RCV000119538 RCV000695746 RCV002288602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr4877Met
CA024204
NM_001042723.2:c.14630C>T