Canonical Allele Identifier: PA2825156157
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 823399
ClinVar RCV Id: RCV001019621
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Pro323Leu
CA375368653
NM_000368.5:c.968C>T