ClinGen Allele Registry
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Canonical Allele Identifier:
PA658804827
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg4321_Leu4323del
CA308109404
NM_000540.3:c.12960_12968del