ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139686785
Gene: ERCC2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Val447Ile
CA9513344
NM_000400.4:c.1339G>A