Canonical Allele Identifier: PA2825956942
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071604
ClinVar RCV Id: RCV004016098
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Lys671Asn
CA375360793
NM_001162427.2:c.2013G>T
CA375360794
NM_001162427.2:c.2013G>C