Canonical Allele Identifier: PA2825420630
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075197
ClinVar RCV Id: RCV004015723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ala2315Val
CA405667242
NM_001042723.2:c.6944C>T