ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825046456
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2171713
ClinVar RCV Id:
RCV003095832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Ala393Val
CA5496373
NM_000124.4:c.1178C>T