Canonical Allele Identifier: PA104392
Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 329508
ClinVar RCV Id: RCV000312948 RCV000489442 RCV000763054 RCV001195426 RCV003470315 RCV002523070
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000391.1:p.Arg616Pro
CA9513025
NM_000400.4:c.1847G>C