Canonical Allele Identifier: PA2827007053
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64992
ClinVar RCV Id: RCV000055196 RCV000547543 RCV003298099
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.His473Tyr
CA015081
NM_001318829.2:c.1417C>T