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: PA2828095252

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64967

ClinVar RCV Id: RCV000055170 RCV001071078 RCV000569125

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Met1649Val	CA021857 NM_001363528.2:c.4945A>G