ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483803
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374116
ClinVar RCV Id:
RCV000415186
RCV001196299
RCV001246234
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Leu530Pro
CA16043449
NM_000124.4:c.1589T>C