ClinGen Allele Registry
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Canonical Allele Identifier:
PA105558
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133061
ClinVar RCV Id:
RCV000119503
RCV001380753
RCV002498548
RCV003231155
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg4737Gln
CA024118
NM_000540.3:c.14210G>A