ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236234
Gene: ERCC8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171383
ClinVar Variation:
191197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000073.1:p.Cys339Tyr
CA236232
NM_000082.4:c.1016G>A