Canonical Allele Identifier: PA2499236949
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1004179
ClinVar RCV Id: RCV001300846 RCV001751578 RCV004004997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2341Ile
CA068972
NM_001042723.2:c.7021G>A