Canonical Allele Identifier: PA2825423109
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65939
ClinVar RCV Id: RCV000056186 RCV000119560 RCV001854161
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe4916Ser
CA024251
NM_001042723.2:c.14747T>C