ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA158763
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120770
RCV000893772
RCV001136196
RCV001292799
RCV001329858
RCV002258797
RCV003153388
RCV004542872
ClinVar Variation:
134098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Tyr16Cys
CA158761
NM_000400.4:c.47A>G