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: PA319356

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207665

ClinVar RCV Id: RCV000233872 RCV000562068 RCV001705066

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ala673Val	CA035710 NM_000548.5:c.2018C>T