ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580209133
Gene: LIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2012495
ClinVar RCV Id:
RCV002843163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339533.1:p.Ser716Pro
CA7043558
NM_001352604.2:c.2146T>C