ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825047129
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1918768
ClinVar RCV Id:
RCV002617350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Lys1210Glu
CA376713244
NM_000124.4:c.3628A>G