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: PA2580253022

Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 2086738

ClinVar RCV Id: RCV003007635

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001944.1:p.Ser362Leu	CA412197599 NM_001953.5:c.1085C>T