ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020606
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000228578
RCV000761036
RCV001023346
ClinVar Variation:
238071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Phe1601Tyr
CA10583340
NM_001318832.2:c.4802T>A