ClinGen Allele Registry
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Canonical Allele Identifier:
PA158972
Gene: ERCC5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.2:p.Gln1013Arg
CA158970
NM_000123.3:c.3038A>G