Canonical Allele Identifier: PA2825422373
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544420
ClinVar RCV Id: RCV000655556 RCV000996906 RCV002493065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala4398Thr
CA308109525
NM_001042723.2:c.13192G>A