Canonical Allele Identifier: PA915962835
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448183
ClinVar RCV Id: RCV000516312 RCV001232037 RCV001755771 RCV002481683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe3205Leu
CA405690339
NM_001042723.2:c.9613T>C
CA405690354
NM_001042723.2:c.9615C>A
CA405690356
NM_001042723.2:c.9615C>G