Canonical Allele Identifier: PA2573174533
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1469498
ClinVar RCV Id: RCV002569299
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026.2:p.Val2111Leu
CA345411310
NM_001035.3:c.6331G>T
CA345411313
NM_001035.3:c.6331G>C