Canonical Allele Identifier: PA2825157047
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231290
ClinVar RCV Id: RCV004525361
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Gln711His
CA375360969
NM_000368.5:c.2133G>T
CA375360971
NM_000368.5:c.2133G>C