Canonical Allele Identifier: PA106214
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93269
ClinVar RCV Id: RCV000148803 RCV000259079 RCV000348954 RCV000315938 RCV000372946 RCV000294059 RCV000487936 RCV001082546
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys1393Arg
CA024433
NM_000540.3:c.4178A>G