ClinGen Allele Registry
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Canonical Allele Identifier:
PA232095
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000531.2:p.Gly248Arg
NM_000540.3:c.742G>A
NM_000540.3:c.742G>C