Canonical Allele Identifier: PA2828419846
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265989
ClinVar RCV Id: RCV000256373 RCV003469206
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser1189Phe
CA10588935
NM_001370405.1:c.3566C>T