ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645484102
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300073
ClinVar RCV Id:
RCV000308072
RCV000362821
RCV000395741
RCV002520597
RCV002480092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Val709Ile
CA5495764
NM_000124.4:c.2125G>A