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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:
PA2826183909
Gene: DDX3X
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424139
ClinVar RCV Id:
RCV000479176
RCV001824805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180346.1:p.Lys272Glu
CA16621383
NM_001193417.3:c.814A>G