ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105828
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1210298
ClinVar RCV Id:
RCV001580389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asp544Tyr
CA308123345
NM_000540.3:c.1630G>T