Canonical Allele Identifier: PA262368
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49058
ClinVar RCV Id: RCV000042311 RCV000442086
ClinVar Variation Id: 1679947
ClinVar RCV Id: RCV002236392
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg190Pro
CA007774
NM_000368.5:c.569G>C
CA2573144299
NM_000368.5:c.569_570delinsCT