ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826568493
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252466
ClinVar RCV Id:
RCV000238687
RCV000289449
RCV000329237
RCV000381521
RCV000873158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263988.1:p.Arg134Trp
CA5496559
NM_001277059.2:c.400C>T