Canonical Allele Identifier: PA2828418116
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237975
ClinVar RCV Id: RCV000228760 RCV003165605 RCV003153525
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala675Thr
CA10583300
NM_001370405.1:c.2023G>A