ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645456131
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000531.2:p.Arg1258Leu
NM_000540.3:c.3773G>T