Canonical Allele Identifier: PA658801505
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 534412
ClinVar RCV Id: RCV000641965 RCV002397230 RCV003126889 RCV004003952
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Pro591Ser
CA375363652
NM_000368.5:c.1771C>T