Canonical Allele Identifier: PA2825423175
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93257
ClinVar RCV Id: RCV000079134 RCV000801203
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Thr4975Met
CA024280
NM_001042723.2:c.14924C>T