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: PA2580498081

Gene: TSSK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2487237

ClinVar RCV Id: RCV004279307

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_443732.3:p.Leu248Phe	CA10096432 NM_053006.5:c.742C>T