Canonical Allele Identifier: PA658659919
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486572
ClinVar RCV Id: RCV000574109 RCV000689229
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Glu1162Asp
CA037138
NM_000368.5:c.3486A>T
CA375366263
NM_000368.5:c.3486A>C