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: PA2825589894

Gene: ADSL HGNC NCBI

Linked Data

ClinVar Variation Id: 2468

ClinVar RCV Id: RCV000002572

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001116850.1:p.Met225Thr	CA115570 NM_001123378.3:c.674T>C