Allele Registry

Canonical Allele Identifier: PA2829981647

Gene: TSC2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

58635

644338

2860129

ClinVar RCV:

RCV000042733

RCV000644318

RCV000803252

RCV001022730

RCV001697067

RCV003166226

RCV003512908

RCV004537169

ClinVar Variation:

49473

648504

2705118

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Phe1484Leu	CA020719 NM_021055.3:c.4450T>C CA394304392 NM_021055.3:c.4452T>A CA394304402 NM_021055.3:c.4452T>G