Canonical Allele Identifier: PA306815
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201210
ClinVar RCV Id: RCV000182676 RCV001189916 RCV001332694 RCV002515320 RCV003227701 RCV002326985 RCV003996742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Ala391Gly
CA007137
NM_001035.3:c.1172C>G