ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205338
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2339879
ClinVar RCV Id:
RCV002960086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Gly698Asp
CA376724285
NM_001346440.2:c.2093G>A