Canonical Allele Identifier: PA2825156142
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693978
ClinVar RCV Id: RCV003505391

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu319Phe
CA375368680
NM_000368.5:c.957G>T
CA375368681
NM_000368.5:c.957G>C