Canonical Allele Identifier: PA915962624
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65933
ClinVar RCV Id: RCV000056180 RCV000119724 RCV002513731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2545Asp
CA024839
NM_001042723.2:c.7635G>C
CA405671402
NM_001042723.2:c.7635G>T