ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825955505
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64748
ClinVar RCV Id:
RCV000054930
RCV000215128
RCV000465854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg285Gln
CA004301
NM_001162427.2:c.854G>A