ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827006610
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000493232
RCV001064683
RCV002431439
RCV004003479
ClinVar Variation:
429535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ile316Val
CA028137
NM_001318829.2:c.946A>G