ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825198229
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
953638
ClinVar RCV Id:
RCV001225966
RCV003142185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Cys1685Trp
CA405653420
NM_000540.3:c.5055C>G