Canonical Allele Identifier: PA2825422934
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1309127
ClinVar RCV Id: RCV001765296
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser4824Phe
CA405687361
NM_001042723.2:c.14471C>T