ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100931
Gene: ERCC4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
70484
ClinVar RCV:
RCV000049247
ClinVar Variation:
55826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005227.1:p.Leu230Pro
CA143936
NM_005236.3:c.689T>C