Canonical Allele Identifier: PA2828410825
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405959
ClinVar RCV Id: RCV000460360 RCV002402240 RCV004000679
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Tyr349Cys
CA16614703
NM_001370404.1:c.1046A>G