ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499233200
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1054515
ClinVar RCV Id:
RCV001363035
RCV002476653
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Lys4681Gln
CA405682086
NM_000540.3:c.14041A>C