ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826273360
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134165
ClinVar RCV Id:
RCV000120838
RCV000356768
RCV000912403
RCV002256055
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Arg1418Trp
CA158962
NM_001204425.2:c.4252C>T