ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104449
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264679
ClinVar RCV Id:
RCV000248679
RCV000812198
RCV002487166
RCV003463714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Arg683Gln
CA10587999
NM_000400.4:c.2048G>A