ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580109425
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2130913
ClinVar RCV Id:
RCV003047937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Leu485Val
CA406367009
NM_000400.4:c.1453C>G