ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104463
Gene: ERCC2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000391.1:p.Arg722Trp
NM_000400.4:c.2164C>T