Canonical Allele Identifier: PA915962635
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544392
ClinVar RCV Id: RCV000655517 RCV002254939 RCV002493063 RCV004004135
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro2567Ser
CA082540
NM_001042723.2:c.7699C>T