Canonical Allele Identifier: PA2499233201
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1052409
ClinVar RCV Id: RCV001360587 RCV001548539 RCV004005272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro4710Leu
CA060854
NM_000540.3:c.14129C>T