Canonical Allele Identifier: PA104568
Gene: ERCC2 HGNC NCBI
ClinVar RCV:
RCV000018282
ClinVar Variation:
16791
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000391.1:p.Leu485Pro
CA257628
NM_000400.4:c.1454T>C