Canonical Allele Identifier: PA092808
Gene: RYR2 HGNC NCBI
ClinVar RCV:
RCV000013827
ClinVar Variation:
12961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Val4653Phe
CA008087
NM_001035.3:c.13957G>T