Canonical Allele Identifier: PA2828421176
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318332
ClinVar RCV Id: RCV000330059 RCV000415620 RCV002338901
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp1569Asn
CA10637331
NM_001370405.1:c.4705G>A