Canonical Allele Identifier: PA658668572
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478193
ClinVar RCV Id: RCV000548775 RCV002491116 RCV003133370 RCV003999488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4645Trp
CA060666
NM_000540.3:c.13933C>T