ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028853
Gene: ERCC6
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001333369.1:p.Arg670Trp
NM_001346440.2:c.2008C>T