Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828414734

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49473

ClinVar RCV Id: RCV000042733 RCV000644318 RCV001022730 RCV001697067 RCV004537169

ClinVar Variation Id: 648504

ClinVar RCV Id: RCV000803252 RCV003166226

ClinVar Variation Id: 2705118

ClinVar RCV Id: RCV003512908

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Phe1483Leu	CA020719 NM_001370404.1:c.4447T>C CA394304392 NM_001370404.1:c.4449T>A CA394304402 NM_001370404.1:c.4449T>G