Canonical Allele Identifier: PA658681109
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478267
ClinVar RCV Id: RCV000557457 RCV001591311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Cys2363Trp
CA405668010
NM_000540.3:c.7089C>G