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: PA319387

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207683

ClinVar RCV Id: RCV001022088 RCV000915945 RCV001721232 RCV003996869

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1409Gln	CA050701 NM_000548.5:c.4226G>A