Canonical Allele Identifier: PA2825201146
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058259
ClinVar RCV Id: RCV001367370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met2608Ile
CA405673009
NM_000540.3:c.7824G>T
CA405673011
NM_000540.3:c.7824G>C
CA405673028
NM_000540.3:c.7824G>A