Canonical Allele Identifier: PA099462
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49060
ClinVar RCV Id: RCV000042313 RCV001852868
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Leu191His
CA007782
NM_000368.5:c.572T>A