ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645483733
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300093
ClinVar RCV Id:
RCV000300289
RCV000356401
RCV000406450
RCV000669790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Leu199Val
CA10635431
NM_000124.4:c.595C>G