ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499232173
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1077127
ClinVar RCV Id:
RCV001391262
RCV001871998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Met724Thr
CA9512860
NM_000400.4:c.2171T>C