ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826273262
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1523080
ClinVar RCV Id:
RCV002036495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Asp1018Gly
CA7041456
NM_001204425.2:c.3053A>G