ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422368
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3030362
ClinVar RCV Id:
RCV004531900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Pro4394Leu
CA405674226
NM_001042723.2:c.13181C>T