ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028890
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190164
ClinVar RCV Id:
RCV000170382
RCV000266566
RCV000323987
RCV000358951
RCV000515412
RCV000724216
RCV000988355
RCV002516541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Gln1041Pro
CA199591
NM_001346440.2:c.3122A>C