Canonical Allele Identifier: PA2825956744
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 466056
ClinVar RCV Id: RCV000546131 RCV001014009 RCV003900178 RCV003999202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001155898.1:p.Lys665Arg
CA375362211
NM_001162426.2:c.1994A>G