ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827334196
Gene: LIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519395
ClinVar RCV Id:
RCV002024580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317524.1:p.Arg748Leu
CA7043498
NM_001330595.2:c.2243G>T