Canonical Allele Identifier: PA2499236809
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014115
ClinVar RCV Id: RCV001312807 RCV001546363 RCV004005065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2539Gly
CA405671294
NM_001042723.2:c.7616C>G