Canonical Allele Identifier: PA2825955461
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64746
ClinVar RCV Id: RCV000054928 RCV004018980
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155899.1:p.Met271Ile
CA008456
NM_001162427.2:c.813G>A
CA375368658
NM_001162427.2:c.813G>T
CA375368659
NM_001162427.2:c.813G>C