Canonical Allele Identifier: PA2827009710
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405960
ClinVar RCV Id: RCV000459439 RCV001249140 RCV001022659 RCV004000680
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Asp1397Asn
CA16614792
NM_001318829.2:c.4189G>A