ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826568589
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2188712
ClinVar RCV Id:
RCV002620437
RCV003161974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001263988.1:p.Gln251Arg
CA5496444
NM_001277059.2:c.752A>G