Canonical Allele Identifier: PA645413158
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287541
ClinVar RCV Id: RCV000366220 RCV001085318 RCV002446526 RCV003995780
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg316Gln
CA039900
NM_000368.5:c.947G>A