Canonical Allele Identifier: PA2580129911
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1721013
ClinVar RCV Id: RCV002296835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr4652Ile
CA405681344
NM_000540.3:c.13955C>T