Canonical Allele Identifier: PA2825155810
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 642944
ClinVar RCV Id: RCV000796501 RCV004001600 RCV003344053
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000359.1:p.Arg228Gln
CA375371452
NM_000368.5:c.683G>A