Canonical Allele Identifier: PA658680990
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467994
ClinVar RCV Id: RCV000525625 RCV004024048
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val1067Leu
CA044723
NM_000548.5:c.3199G>C