ClinGen Allele Registry
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Canonical Allele Identifier:
PA251919
Gene: ERCC6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000115.1:p.Trp517Ter
NM_000124.4:c.1550G>A
NM_000124.4:c.1551G>A