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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:
PA2828323317
Gene: DCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
82052
ClinVar RCV Id:
RCV000145834
RCV000487771
RCV003144121
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356303.1:p.Arg102His
CA171926
NM_001369374.1:c.305G>A