ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741823948
Gene: RYR2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Val4165Ala
CA345413470
NM_001035.3:c.12494T>C