Canonical Allele Identifier: PA645413280
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255948
ClinVar RCV Id: RCV000246586 RCV000475779 RCV001658164 RCV002411112
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Glu625Ala
CA10587021
NM_000368.5:c.1874A>C