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: PA658804997

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535909

ClinVar RCV Id: RCV000644136 RCV002422323 RCV002221568

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro672Ala	CA394274478 NM_000548.5:c.2014C>G