ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA158980
Gene: ERCC5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.2:p.Ala1119Val
CA158978
NM_000123.3:c.3356C>T