Canonical Allele Identifier: PA1139681128
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 931921
ClinVar RCV Id: RCV001198931 RCV002480651 RCV002559270 RCV003130178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Met2618Ile
CA070853
NM_001042723.2:c.7854G>A
CA405673645
NM_001042723.2:c.7854G>C
CA405673648
NM_001042723.2:c.7854G>T