ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028861
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300073
ClinVar RCV Id:
RCV000308072
RCV000362821
RCV000395741
RCV002520597
RCV002480092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Val709Ile
CA5495764
NM_001346440.2:c.2125G>A