Canonical Allele Identifier: PA2825572946
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64956
ClinVar RCV Id: RCV000055159 RCV001009773 RCV001079443
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001107854.1:p.Lys347Arg
CA013642
NM_001114382.3:c.1040A>G