Canonical Allele Identifier: PA319234
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207606
ClinVar RCV Id: RCV000473657 RCV000575230 RCV001705059 RCV003996850
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Met351Val
CA319232
NM_000368.5:c.1051A>G