Canonical Allele Identifier: PA891865193
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590599
ClinVar RCV Id: RCV000721681 RCV001127918 RCV001127920 RCV001127919 RCV001243513 RCV002485828 RCV003318384
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2627Gly
CA082908
NM_000540.3:c.7880T>G