Canonical Allele Identifier: PA891857682
Gene: RYR2 HGNC NCBI
ClinVar RCV:
RCV002547124
ClinVar Variation:
568135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Ala4510Pro
CA345417159
NM_001035.3:c.13528G>C