ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573248774
Gene: ERCC4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002259277
ClinVar Variation:
1692882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005227.1:p.Ser693Ile
CA7910672
NM_005236.3:c.2078G>T