ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104463
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16792
ClinVar RCV Id:
RCV000018283
RCV000255624
RCV000677676
RCV000763052
RCV001199920
RCV001449816
RCV004532382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Arg722Trp
CA126893
NM_000400.4:c.2164C>T