Canonical Allele Identifier: PA915961796
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 159840
ClinVar RCV Id: RCV000147418 RCV000148798 RCV000210007 RCV000243154 RCV002483286 RCV001087371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp708Asn
CA024331
NM_001042723.2:c.2122G>A