ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827404650
Gene: DYRK1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483733
ClinVar Variation:
424348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334650.1:p.Arg316His
CA16621001
NM_001347721.2:c.947G>A