ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205334
Gene: ERCC6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Leu685Pro
CA376724372
NM_001346440.2:c.2054T>C