ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097854
Gene: ERCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1718
ClinVar RCV Id:
RCV000001788
RCV000059650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000073.1:p.Ala205Pro
CA219858
NM_000082.4:c.613G>C