Canonical Allele Identifier: PA915961687
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133102
ClinVar RCV Id: RCV000119577 RCV000802081 RCV001588943 RCV003227654 RCV003227655 RCV003227651 RCV003227653 RCV003227650 RCV003227652 RCV003227649
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg533Cys
CA024293
NM_001042723.2:c.1597C>T