Canonical Allele Identifier: PA2825187617
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2767300
ClinVar RCV Id: RCV003512645

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Lys1544Asn
CA394304868
NM_000548.5:c.4632G>C
CA394304870
NM_000548.5:c.4632G>T