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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:
PA2828322696
Gene: DCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
932639
ClinVar RCV Id:
RCV001200546
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356300.1:p.Arg56Leu
CA414246964
NM_001369371.1:c.167G>T