ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962601
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001036188.1:p.Arg2458His
NM_001042723.2:c.7373G>A