Canonical Allele Identifier: PA2825422808
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133060
ClinVar RCV Id: RCV000119502 RCV001070022 RCV001449998
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg4732Trp
CA024116
NM_001042723.2:c.14194C>T