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: PA2827007296

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318315

ClinVar RCV Id: RCV000302466 RCV000518552 RCV000555395 RCV000562015 RCV001545749

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ile557Val	CA033640 NM_001318829.2:c.1669A>G