ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955219
Gene: ERCC8
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001007235.1:p.Glu13Ter
NM_001007234.3:c.37G>T