ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100872
Gene: ERCC4
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005227.1:p.Arg799Trp
NM_005236.3:c.2395C>T