Canonical Allele Identifier: PA2827009816
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2767300
ClinVar RCV Id: RCV003512645
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Lys1429Asn
CA394304868
NM_001318829.2:c.4287G>C
CA394304870
NM_001318829.2:c.4287G>T