ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825046478
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
879712
ClinVar RCV Id:
RCV001107417
RCV001107418
RCV001107419
RCV001819817
RCV002556102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Arg413Trp
CA5496361
NM_000124.4:c.1237C>T