Canonical Allele Identifier: PA1139681675
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985943
ClinVar RCV Id: RCV001267118 RCV001880132 RCV004004933
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala3295Thr
CA074271
NM_001042723.2:c.9883G>A