ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104418
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16785
ClinVar RCV Id:
RCV000018275
RCV002482884
RCV002513098
RCV003153304
RCV003460483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Arg658Cys
CA126885
NM_000400.4:c.1972C>T