Canonical Allele Identifier: PA915962516
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590576
ClinVar RCV Id: RCV000721628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val2339Phe
CA405667482
NM_001042723.2:c.7015G>T