ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104401
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16788
ClinVar RCV Id:
RCV000018278
RCV000171547
RCV001582486
RCV002468972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Arg616Trp
CA126891
NM_000400.4:c.1846C>T