ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825201151
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2718071
ClinVar RCV Id:
RCV003592831
RCV004011372
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ser2609Ala
CA405673031
NM_000540.3:c.7825T>G