Canonical Allele Identifier: PA1139672729
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 982757
ClinVar RCV Id: RCV001262410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gln3969Lys
CA405662559
NM_000540.3:c.11905C>A