Canonical Allele Identifier: PA645436500
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318338
ClinVar RCV Id: RCV000340010 RCV000457441 RCV001545216 RCV002298569 RCV002255364 RCV004537798
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Pro1770Ser
CA055015
NM_000548.5:c.5308C>T