Canonical Allele Identifier: PA915961479
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198090
ClinVar RCV Id: RCV000179321 RCV000721583 RCV000765443 RCV000549945 RCV003221838 RCV003996579
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu176Lys
CA024501
NM_001042723.2:c.526G>A