Canonical Allele Identifier: PA262387
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 49073
ClinVar RCV Id: RCV000042326 RCV000641989
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Phe216Ser
CA007933
NM_000368.5:c.647T>C