ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825954629
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000054879
RCV000456358
RCV000782214
RCV002371892
ClinVar Variation:
64704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Val133Ile
CA007561
NM_001162426.2:c.397G>A