ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104548
Gene: ERCC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018276
RCV003230368
ClinVar Variation:
16786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Gly713Arg
CA126887
NM_000400.4:c.2137G>C