ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3086405566
Gene: RYR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Glu4167Gln
CA405669323
NM_000540.3:c.12499G>C