ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825958026
Gene: TSC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000543231
RCV001731763
RCV002323976
RCV003999223
ClinVar Variation:
466133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001155899.1:p.Thr1068Ile
CA036612
NM_001162427.2:c.3203C>T