Canonical Allele Identifier: PA2827001480
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405944
ClinVar RCV Id: RCV000471506 RCV001012244 RCV001564370
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ser489Asn
CA031083
NM_001318827.2:c.1466G>A