Canonical Allele Identifier: PA2573168122
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1692389
ClinVar RCV Id: RCV002257180 RCV004005561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.His437Asp
CA375366126
NM_000368.5:c.1309C>G