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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:
PA2828323311
Gene: DCX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158449
ClinVar RCV Id:
RCV000145830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356303.1:p.Gly100Val
CA171914
NM_001369374.1:c.299G>T