ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580133649
Gene: RYR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Thr415Ile
CA345377764
NM_001035.3:c.1244C>T