Canonical Allele Identifier: PA2825201107
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2176132
ClinVar RCV Id: RCV002602537
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2598Val
CA070276
NM_000540.3:c.7793C>T