Canonical Allele Identifier: PA1139680126
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 201157
ClinVar RCV Id: RCV001122983 RCV001122984 RCV001122985 RCV002503710
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr1745Arg
CA024499
NM_001042723.2:c.5234C>G