Canonical Allele Identifier: PA2580147004
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2064676
ClinVar RCV Id: RCV002953604 RCV002953605 RCV004007721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Leu2607Phe
CA070343
NM_001042723.2:c.7819C>T