ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825046932
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1523072
ClinVar RCV Id:
RCV002048823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Ile972Val
CA376718376
NM_000124.4:c.2914A>G