Canonical Allele Identifier: PA2828416377
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468130
ClinVar RCV Id: RCV000547492 RCV000765259 RCV002341371 RCV003470759
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Trp167Cys
CA053524
NM_001370405.1:c.501G>C
CA394309159
NM_001370405.1:c.501G>T