ClinGen Allele Registry
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Canonical Allele Identifier:
PA3086246920
Gene: ERCC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Arg683Leu
CA9512903
NM_000400.4:c.2048G>T