ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450124
Gene: ERCC3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000404854
RCV001366056
RCV002256208
ClinVar Variation:
331076
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000113.1:p.Ala694Thr
CA1858090
NM_000122.2:c.2080G>A