ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825423006
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001363838
RCV002246339
ClinVar Variation:
1055202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Asn4860del
CA2576827526
NM_001042723.2:c.14580_14582del