ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825285935
Gene: ERCC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1718
ClinVar RCV Id:
RCV000001788
RCV000059650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007234.1:p.Ala147Pro
CA219858
NM_001007233.3:c.439G>C