Canonical Allele Identifier: PA2825423041
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65952
ClinVar RCV Id: RCV000056199 RCV000119542 RCV004528261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.His4882Tyr
CA024212
NM_001042723.2:c.14644C>T