ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825285892
Gene: ERCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1717
ClinVar RCV Id:
RCV000001787
RCV000059647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007234.1:p.Ala102Val
CA219852
NM_001007233.3:c.305C>T