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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:
PA2830166764
Gene: DYRK1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1254522
ClinVar RCV Id:
RCV001665447
RCV003640981
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569120.1:p.Tyr671His
CA320469898
NM_130436.2:c.2011T>C