ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499242099
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997504
ClinVar RCV Id:
RCV001292692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Gln625Lys
CA7041187
NM_001204425.2:c.1873C>A