Canonical Allele Identifier: PA2828417952
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135373
ClinVar RCV Id: RCV000122210 RCV001013672 RCV000807299 RCV003997362 RCV004542921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val638Met
CA016199
NM_001370405.1:c.1912G>A