Canonical Allele Identifier: PA2499248260
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014307
ClinVar RCV Id: RCV001313020
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Arg40Ser
CA394301356
NM_001318832.2:c.120G>C
CA394301358
NM_001318832.2:c.120G>T