Canonical Allele Identifier: PA645456441
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_000531.2:p.Pro4448Ser
CA10651893
NM_000540.3:c.13342C>T