ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749577
Gene: ARX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001228236
ClinVar Variation:
955567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Ala150Val
CA412613162
NM_139058.3:c.449C>T