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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:
PA2827405213
Gene: DYRK1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421881
ClinVar RCV Id:
RCV000478835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334651.1:p.Ala268Pro
CA16621000
NM_001347722.2:c.802G>C