Canonical Allele Identifier: PA658804727
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544389
ClinVar RCV Id: RCV000655513
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala1700Val
CA405653767
NM_000540.3:c.5099C>T