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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA206633
Gene: DYRK1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210893
ClinVar RCV Id:
RCV000193270
RCV000224108
RCV001080736
RCV002314810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001387.2:p.Ala679Pro
CA206632
NM_001396.5:c.2035G>C