Canonical Allele Identifier: PA2828411388
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_001357333.1:p.His522Tyr
CA015081
NM_001370404.1:c.1564C>T