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: PA916024053

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49241

ClinVar RCV Id: RCV000042500 RCV000201071

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg999Pro	CA018497 NM_001318832.2:c.2996G>C