ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422357
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002040045
RCV002489947
ClinVar Variation:
1352926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Glu4385Gln
CA405673905
NM_001042723.2:c.13153G>C