Canonical Allele Identifier: PA2825423124
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 448180
ClinVar RCV Id: RCV000518304
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gln4929His
CA405691200
NM_001042723.2:c.14787G>C
CA405691202
NM_001042723.2:c.14787G>T