Canonical Allele Identifier: PA915962469
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133163
ClinVar RCV Id: RCV000119660 RCV001854583 RCV003231156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.His2204Gln
CA024617
NM_001042723.2:c.6612C>G
CA405665883
NM_001042723.2:c.6612C>A