ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573067426
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001191354.2:p.Gln630Ter
NM_001204425.2:c.1888C>T