ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954953
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000361865
RCV001023070
RCV001084683
RCV003153524
ClinVar Variation:
237721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Arg109His
CA037559
NM_001162427.2:c.326G>A