Canonical Allele Identifier: PA2825202328
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 651289
ClinVar RCV Id: RCV000806613 RCV001198333 RCV004001687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro3292Ser
CA074266
NM_000540.3:c.9874C>T