Canonical Allele Identifier: PA2825955283
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237728
ClinVar RCV Id: RCV000227461 RCV000270939 RCV000566627 RCV003998781
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Asp222Glu
CA039098
NM_001162427.2:c.666T>G
CA375369393
NM_001162427.2:c.666T>A