ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422969
Gene: RYR1
HGNC
NCBI
Linked Data - Other
Linked-Data Service Error:
Error
Failed to retrieve aggregated linked-data
Status
NodeJS Error object: timeout of 3500ms exceeded
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Leu4846Pro
CA405687678
NM_001042723.2:c.14537T>C