Canonical Allele Identifier: PA1139681696
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 864497
ClinVar RCV Id: RCV001071703 RCV001355156 RCV004000205
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala3300Val
CA074314
NM_001042723.2:c.9899C>T