Canonical Allele Identifier: PA2828419357
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207743
ClinVar RCV Id: RCV000190017 RCV001019560 RCV001085830 RCV004537596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Gly1048Ser
CA319506
NM_001370405.1:c.3142G>A