Canonical Allele Identifier: PA658681104
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478264
ClinVar RCV Id: RCV000555449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2352Leu
CA405667839
NM_000540.3:c.7054G>C
CA405667841
NM_000540.3:c.7054G>T