Canonical Allele Identifier: PA2825422910
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65964
ClinVar RCV Id: RCV000056211 RCV000119514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu4809Phe
CA024141
NM_001042723.2:c.14425C>T