ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826568264
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500495
ClinVar RCV Id:
RCV000596097
RCV000668240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263987.1:p.Glu382_Glu384del
CA593780523
NM_001277058.2:c.1146_1154del