Canonical Allele Identifier: PA1139672680
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966746
ClinVar RCV Id: RCV001241499
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser3937Pro
CA405661785
NM_000540.3:c.11809T>C