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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:
PA2830166394
Gene: DYRK1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204010
ClinVar RCV Id:
RCV000190484
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569120.1:p.Leu236Arg
CA278533
NM_130436.2:c.707T>G