ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126682
Gene: ERCC5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000114.2:p.Gln176Ter
NM_000123.3:c.526C>T