ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580205209
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2188712
ClinVar RCV Id:
RCV002620437
RCV003161974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Gln251Arg
CA5496444
NM_001346440.2:c.752A>G