ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826568210
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
550158
ClinVar RCV Id:
RCV000664827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263987.1:p.Thr303_Val308del
CA5496411
NM_001277058.2:c.906_923del