ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA133004
Gene: RYR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ile2721Thr
CA010859
NM_001035.3:c.8162T>C