Canonical Allele Identifier: PA2828060971
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 486579
ClinVar RCV Id: RCV000563196 RCV002491142 RCV000796947
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Glu840Gly
CA034889
NM_001362177.1:c.2519A>G