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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:
PA2827659809
Gene: LIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
397529
ClinVar RCV Id:
RCV000449526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339527.1:p.Leu774Pro
CA16609403
NM_001352598.2:c.2321T>C