Canonical Allele Identifier: PA2827002377
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207669
ClinVar RCV Id: RCV000814544 RCV002444770 RCV003153465
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.His726Tyr
CA038145
NM_001318827.2:c.2176C>T