ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645483814
Gene: ERCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483921
ClinVar Variation:
422107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Leu549Pro
CA16618958
NM_000124.4:c.1646T>C