ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826273210
Gene: BIVM-ERCC5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Ser477Leu
CA7040901
NM_001204425.2:c.1430C>T