ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827661000
Gene: LIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2151954
ClinVar RCV Id:
RCV003079036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339529.1:p.Thr817Ala
CA7043494
NM_001352600.2:c.2449A>G