ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247940
Gene: ERCC8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000073.1:p.Thr280Lys
CA247938
NM_000082.4:c.839C>A