Canonical Allele Identifier: PA1139680516
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 891882
ClinVar RCV Id: RCV001127444 RCV001127443 RCV001127445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2200Gly
CA405665795
NM_001042723.2:c.6599C>G