ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825200266
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2435519
ClinVar RCV Id:
RCV003135825
RCV003757250
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Arg2234His
CA405666239
NM_000540.3:c.6701G>A