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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:
PA2828322739
Gene: DCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280251
ClinVar RCV Id:
RCV000377977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356300.1:p.Arg102Gly
CA10603581
NM_001369371.1:c.304C>G