Canonical Allele Identifier: PA2825421377
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12983
ClinVar RCV Id: RCV000013854 RCV000119413
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro3522Ser
CA023845
NM_001042723.2:c.10564C>T