ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825045991
Gene: ERCC5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Arg1178His
CA7041924
NM_000123.4:c.3533G>A