Canonical Allele Identifier: PA2825423028
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133082
ClinVar RCV Id: RCV000119537 RCV001588939 RCV003591682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met4875Thr
CA024202
NM_001042723.2:c.14624T>C