Canonical Allele Identifier: PA658680754
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478249
ClinVar RCV Id: RCV000542622 RCV001591310 RCV003133374 RCV003999505
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Glu209Lys
CA067959
NM_000540.3:c.625G>A