ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825046369
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1716183
ClinVar RCV Id:
RCV002303261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Cys290Phe
CA376754248
NM_000124.4:c.869G>T