ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915955227
Gene: ERCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68753
ClinVar RCV Id:
RCV000059646
RCV000664947
RCV004525867
RCV004542735
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007235.1:p.Ala160Thr
CA219850
NM_001007234.3:c.478G>A