Canonical Allele Identifier: PA915961498
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478249
ClinVar RCV Id: RCV000542622 RCV001591310 RCV003133374 RCV003999505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu209Lys
CA067959
NM_001042723.2:c.625G>A