Canonical Allele Identifier: PA915962438
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329051
ClinVar RCV Id: RCV000281444 RCV000275501 RCV000330565 RCV000375920 RCV001368607 RCV001795948
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2136His
CA068218
NM_001042723.2:c.6407G>A