ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826780911
Gene: ERCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
354013
ClinVar RCV Id:
RCV000310103
RCV000951221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277214.1:p.Val216Leu
CA3277626
NM_001290285.1:c.646G>C