ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028931
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300034
ClinVar RCV Id:
RCV000262594
RCV000316584
RCV000375860
RCV000483087
RCV002520592
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Val1465Ile
CA5495122
NM_001346440.2:c.4393G>A