ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825046978
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2689031
ClinVar RCV Id:
RCV003490751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Pro1032Arg
CA5495414
NM_000124.4:c.3095C>G