ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825956613
Gene: TSC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
466045
ClinVar RCV Id:
RCV000536952
RCV001013415
RCV003159132
RCV003999197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155898.1:p.Thr623Ile
CA029981
NM_001162426.2:c.1868C>T