ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828061063
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000570020
RCV000727040
RCV000796986
RCV001323564
RCV002440647
ClinVar Variation:
207637
643313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349106.1:p.Gly878Arg
CA035493
NM_001362177.1:c.2632G>A
CA035511
NM_001362177.1:c.2632G>C