Canonical Allele Identifier: PA105508
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133030
ClinVar RCV Id: RCV000119450 RCV000655592 RCV001588935 RCV004017406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg401His
CA023959
NM_000540.3:c.1202G>A