Canonical Allele Identifier: PA645389420
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 252509
ClinVar RCV Id: RCV000238973 RCV001186228 RCV002223830 RCV002365250 RCV002519858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Pro2078Ser
CA087077
NM_001035.3:c.6232C>T