Canonical Allele Identifier: PA2825422804
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133059
ClinVar RCV Id: RCV000119501 RCV001449997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly4729Glu
CA024112
NM_001042723.2:c.14186G>A