ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825421832
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2081053
ClinVar RCV Id:
RCV002993987
RCV003134582
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Ser3973Gly
CA057930
NM_001042723.2:c.11917A>G