ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104497
Gene: ERCC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018277
RCV003114198
RCV003488344
ClinVar Variation:
16787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Asp681Asn
CA126889
NM_000400.4:c.2041G>A