Canonical Allele Identifier: PA2573180196
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394314
ClinVar RCV Id: RCV001900875 RCV004010794
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile2512Thr
CA405670407
NM_001042723.2:c.7535T>C