ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742007205
Gene: ARX
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003809511
ClinVar Variation:
2948737
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620689.1:p.Ala214Asp
CA412612749
NM_139058.3:c.641C>A