ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104330
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16784
ClinVar RCV Id:
RCV000018274
RCV000018273
RCV000424822
RCV003466865
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Arg112His
CA126883
NM_000400.4:c.335G>A