ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580109894
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2428974
ClinVar RCV Id:
RCV003123215
RCV003466016
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Ala725Thr
CA406360942
NM_000400.4:c.2173G>A