ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057576196
Gene: ARX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004590911
RCV004767580
ClinVar Variation:
3252939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Ala370Val
CA412611724
NM_139058.3:c.1109C>T