ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580317563
Gene: ERCC4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2048778
ClinVar RCV Id:
RCV002932054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005227.1:p.Lys817Gln
CA394823873
NM_005236.3:c.2449A>C