Canonical Allele Identifier: PA2828410096
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486657
ClinVar RCV Id: RCV000561673 RCV001295259
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Lys125Asn
CA048320
NM_001370404.1:c.375G>C
CA394306751
NM_001370404.1:c.375G>T