Canonical Allele Identifier: PA1139673297
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 935200
ClinVar RCV Id: RCV001203743
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4745Glu
CA405684522
NM_000540.3:c.14235C>A
CA405684523
NM_000540.3:c.14235C>G