Canonical Allele Identifier: PA099478
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5104
ClinVar RCV Id: RCV000005411 RCV000042336
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Met224Arg
CA008014
NM_000368.5:c.671T>G