Canonical Allele Identifier: PA231857
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133056
ClinVar RCV Id: RCV000119496 RCV001449979
ClinVar Variation Id: 947946
ClinVar RCV Id: RCV001219102
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4668Ser
CA024099
NM_000540.3:c.14002C>T
CA1139666441
NM_000540.3:c.14001_14002delinsTT