ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA232051
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000531.2:p.Asn2283His
NM_000540.3:c.6847A>C