Canonical Allele Identifier: PA658804802
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 544426
ClinVar RCV Id: RCV000655563 RCV000721760 RCV002307581 RCV002499131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg3287Cys
CA074235
NM_000540.3:c.9859C>T