Canonical Allele Identifier: PA645413295
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 411280
ClinVar RCV Id: RCV000469642 RCV002418418 RCV004001909
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Asp675Asn
CA16612762
NM_000368.5:c.2023G>A