Canonical Allele Identifier: PA264330
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64818
ClinVar RCV Id: RCV000055010 RCV002273951
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.His181Pro
CA007715
NM_000368.5:c.542A>C