Canonical Allele Identifier: PA2573171491
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1417444
ClinVar RCV Id: RCV001948146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Gln4004Glu
CA405663056
NM_000540.3:c.12010C>G