Canonical Allele Identifier: PA2828061342
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 184790
ClinVar RCV Id: RCV000164106 RCV000463228 RCV003474851 RCV003995315
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Asp1015Glu
CA007356
NM_001362177.1:c.3045T>A
CA375366432
NM_001362177.1:c.3045T>G