Canonical Allele Identifier: PA2828091548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 256621
ClinVar RCV Id: RCV000245013 RCV003626612
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.His597Gln
CA10587224
NM_001363528.2:c.1791C>G
CA394272928
NM_001363528.2:c.1791C>A