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: PA2827004266

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41740

ClinVar RCV Id: RCV000034657 RCV000054871 RCV000566784 RCV000606975 RCV000768352 RCV001082570 RCV004534723

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1306Trp	CA020096 NM_001318827.2:c.3916C>T