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: PA2829975116

Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2064894

ClinVar RCV Id: RCV002928926

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Pro672Arg	CA035644 NM_021055.3:c.2015C>G