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: PA2499297309

Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1216161

ClinVar RCV Id: RCV001593824 RCV001866194

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_620689.1:p.Asp247His	CA10373884 NM_139058.3:c.739G>C