Canonical Allele Identifier: PA2825422913
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133068
ClinVar RCV Id: RCV000119515 RCV001449992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile4812Phe
CA024143
NM_001042723.2:c.14434A>T