Allele Registry

Canonical Allele Identifier: PA2742007174

Gene: ARX HGNC NCBI

ClinVar RCV:

RCV003803115

RCV005212525

ClinVar Variation:

2943557

3755880

HGVS (amino-acid)	Matching Registered Transcripts
NP_620689.1:p.Val183Leu	CA412612936 NM_139058.3:c.547G>T CA412612937 NM_139058.3:c.547G>C