Canonical Allele Identifier: PA2825156140
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1441676
ClinVar RCV Id: RCV001967986

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Met318Leu
CA375368693
NM_000368.5:c.952A>T
CA375368695
NM_000368.5:c.952A>C