Canonical Allele Identifier: PA915962332
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133144
ClinVar RCV Id: RCV000148807 RCV000119633 RCV001449805 RCV001265978 RCV001057054 RCV002505055
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ser1728Phe
CA024494
NM_001042723.2:c.5183C>T