Canonical Allele Identifier: PA212130
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224400
ClinVar RCV Id: RCV000210015 RCV000547789 RCV000521020 RCV000764195 RCV000626705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg3867Cys
CA057247
NM_000540.3:c.11599C>T