Canonical Allele Identifier: PA2825422449
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329125
ClinVar RCV Id: RCV000308549 RCV000311809 RCV000352821 RCV000392811 RCV002502270 RCV002521225
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro4443Ser
CA10651893
NM_001042723.2:c.13327C>T