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: PA645407299

Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 223052

ClinVar RCV Id: RCV000208705 RCV002517411

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001944.1:p.Leu371Pro	CA16616794 NM_001953.5:c.1112T>C