ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825437682
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000461845
RCV000570432
RCV001662421
RCV004000712
ClinVar Variation:
406069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Ala1151Val
CA047499
NM_001077183.3:c.3452C>T