Canonical Allele Identifier: PA2825422715
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478193
ClinVar RCV Id: RCV000548775 RCV002491116 RCV003133370 RCV003999488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg4640Trp
CA060666
NM_001042723.2:c.13918C>T