ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825046356
Gene: ERCC6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Glu272Lys
CA5496431
NM_000124.4:c.814G>A