ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826568274
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300085
ClinVar RCV Id:
RCV000296235
RCV000348685
RCV000388161
RCV000923032
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263987.1:p.Glu387Lys
CA5496377
NM_001277058.2:c.1159G>A