ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573067446
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134193
ClinVar RCV Id:
RCV000120866
RCV000897102
RCV001109781
RCV002256060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Arg874His
CA159073
NM_001204425.2:c.2621G>A