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: PA645422984

Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 265040

ClinVar RCV Id: RCV000255677 RCV001253064

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_620689.1:p.Arg330His	CA10588763 NM_139058.3:c.989G>A