ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825160204
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3231669
ClinVar RCV Id:
RCV004518385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Ala667Val
CA406363015
NM_000400.4:c.2000C>T