ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828807562
Gene: LIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1306291
ClinVar RCV Id:
RCV001767244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366024.1:p.Phe342Ser
CA7043761
NM_001379095.1:c.1025T>C