ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028840
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300080
ClinVar RCV Id:
RCV000280376
RCV000335550
RCV000402785
RCV003114473
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Arg479Cys
CA5495972
NM_001346440.2:c.1435C>T