Canonical Allele Identifier: PA2825201120
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1309272
ClinVar RCV Id: RCV001765441 RCV004009008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2600His
CA070297
NM_000540.3:c.7799G>A