Canonical Allele Identifier: PA2825202300
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1415861
ClinVar RCV Id: RCV001933294 RCV003313249
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Trp3285Arg
CA405692365
NM_000540.3:c.9853T>A
CA405692366
NM_000540.3:c.9853T>C