ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573202748
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1504994
ClinVar RCV Id:
RCV002047947
RCV002657725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Arg296Gly
CA5496419
NM_001346440.2:c.886A>G