Canonical Allele Identifier: PA105538
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133045
ClinVar RCV Id: RCV000119473 RCV001238887 RCV001588936 RCV001787950 RCV001787944 RCV001787945 RCV001787946 RCV001787947 RCV001787948 RCV001787949 RCV003338417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg44Cys
CA024034
NM_000540.3:c.130C>T