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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:
PA2828322947
Gene: DCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11599
ClinVar RCV Id:
RCV000012360
RCV000012359
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356301.1:p.Tyr125His
CA121594
NM_001369372.1:c.373T>C