Canonical Allele Identifier: PA2573168110
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1439395
ClinVar RCV Id: RCV001941291

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Met425Ile
CA375366202
NM_000368.5:c.1275G>T
CA375366203
NM_000368.5:c.1275G>C
CA375366204
NM_000368.5:c.1275G>A