ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248737
Gene: ERCC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134128
ClinVar RCV Id:
RCV000120800
RCV000765502
RCV001129472
RCV001294157
RCV001362006
RCV002257425
RCV004019680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000113.1:p.Arg283Cys
CA248735
NM_000122.2:c.847C>T