ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826568579
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
593939
ClinVar RCV Id:
RCV000729115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263988.1:p.Arg241His
CA5496454
NM_001277059.2:c.722G>A