ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825159414
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3231718
ClinVar RCV Id:
RCV004518433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Arg286Pro
CA308966814
NM_000400.4:c.857G>C