ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830522175
Gene: LIG4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_996820.1:p.Pro248Leu
CA388620744
NM_206937.2:c.743C>T