Canonical Allele Identifier: PA1139679949
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 994735
ClinVar RCV Id: RCV001288365 RCV002486085 RCV004035560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1655Cys
CA066551
NM_001042723.2:c.4963C>T