ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104557
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16779
ClinVar RCV Id:
RCV000018267
RCV000120764
RCV000171546
RCV000897210
RCV002256001
RCV002513097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Leu461Val
CA158746
NM_000400.4:c.1381C>G