Canonical Allele Identifier: PA2825420283
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074725
ClinVar RCV Id: RCV004014259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile1744Met
CA405654249
NM_001042723.2:c.5232C>G