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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:
PA2741863772
Gene: DDX3X
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3032979
ClinVar RCV Id:
RCV004534663
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001347.3:p.Pro386His
CA412771528
NM_001356.5:c.1157C>A