Canonical Allele Identifier: PA2825422971
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284245
ClinVar RCV Id: RCV000655579 RCV000721382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Tyr4847Cys
CA10604732
NM_001042723.2:c.14540A>G