Canonical Allele Identifier: PA2825201001
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 955850
ClinVar RCV Id: RCV001228560 RCV004004823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2575His
CA070067
NM_000540.3:c.7724G>A