Canonical Allele Identifier: PA915962434
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133158
ClinVar RCV Id: RCV000119651 RCV001580438 RCV002477306 RCV003591685
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly2130Arg
CA024578
NM_001042723.2:c.6388G>A
CA405663823
NM_001042723.2:c.6388G>C