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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:
PA916035449
Gene: LIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310990
ClinVar RCV Id:
RCV000302024
RCV000359181
RCV000481605
RCV002520852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339533.1:p.Arg200Gln
CA7043827
NM_001352604.2:c.599G>A