ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891865184
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
590584
ClinVar RCV Id:
RCV000721648
RCV001862101
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Glu2439Lys
CA405669658
NM_000540.3:c.7315G>A