Canonical Allele Identifier: PA2827011977
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 453076
ClinVar RCV Id: RCV000523784 RCV002438264 RCV003512053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Gln171Arg
CA394318377
NM_001318831.2:c.512A>G