Canonical Allele Identifier: PA2825195228
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071272
ClinVar RCV Id: RCV004014774
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr246Phe
CA405680159
NM_000540.3:c.737A>T