ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916028887
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300055
ClinVar RCV Id:
RCV000281519
RCV000338857
RCV000403327
RCV002520595
RCV002487335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Lys997Glu
CA5495457
NM_001346440.2:c.2989A>G