Canonical Allele Identifier: PA2825420289
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074999
ClinVar RCV Id: RCV004015525
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro1749Leu
CA405654291
NM_001042723.2:c.5246C>T