ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA199599
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1707
ClinVar RCV Id:
RCV000001776
RCV000170384
RCV000224059
RCV000345279
RCV000291488
RCV000988354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Pro1095Arg
CA199597
NM_000124.4:c.3284C>G