Allele Registry

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.

Canonical Allele Identifier: PA2830166769

Gene: DYRK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 515685

ClinVar RCV Id: RCV001215853 RCV001698434

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_569120.1:p.Arg674Cys	CA10024150 NM_130436.2:c.2020C>T