Canonical Allele Identifier: PA645456309
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329073
ClinVar RCV Id: RCV000293520 RCV000294591 RCV000329674 RCV000388909 RCV000685740 RCV003133225 RCV002504109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu2635Val
CA071025
NM_000540.3:c.7904A>T