Canonical Allele Identifier: PA319306
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207636
ClinVar RCV Id: RCV000189855 RCV000558000 RCV002453702 RCV003153464
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gln792Arg
CA319304
NM_000368.5:c.2375A>G