ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3076723049
Gene: ERCC6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Gln723Lys
CA376724125
NM_000124.4:c.2167C>A