ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825045692
Gene: ERCC5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Ala347Ser
CA7041335
NM_000123.4:c.1039G>T