Canonical Allele Identifier: PA915987285
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 48800
ClinVar RCV Id: RCV000042047 RCV000461171 RCV001011985
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Glu51Asp
CA005036
NM_001162427.2:c.153A>C
CA375375142
NM_001162427.2:c.153A>T