Canonical Allele Identifier: PA658804774
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 499811
ClinVar RCV Id: RCV000596538 RCV003352935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2600Cys
CA405672205
NM_000540.3:c.7798C>T