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: PA2573301921

Gene: ARX HGNC NCBI

Linked Data

ClinVar Variation Id: 1479803

ClinVar RCV Id: RCV001991033

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_620689.1:p.Val207Leu	CA412612793 NM_139058.3:c.619G>C CA412612794 NM_139058.3:c.619G>T