Canonical Allele Identifier: PA319288
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207629
ClinVar RCV Id: RCV000189843 RCV000642034 RCV002372157 RCV003996855
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Thr300Ala
CA319286
NM_000368.5:c.898A>G