Canonical Allele Identifier: PA658654307
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 440962
ClinVar RCV Id: RCV000509349 RCV001223356 RCV001703183 RCV004003564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro1293Thr
CA065302
NM_000540.3:c.3877C>A