ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916004626
Gene: BIVM-ERCC5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.1:p.Arg497Trp
CA7041057
NM_001204425.1:c.1489C>T