ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827334025
Gene: LIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1041190
ClinVar RCV Id:
RCV001344954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317524.1:p.Ile573Phe
CA388615397
NM_001330595.2:c.1717A>T