ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645484207
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300059
ClinVar RCV Id:
RCV000288031
RCV000343009
RCV000404286
RCV001812787
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Thr914Met
CA5495546
NM_000124.4:c.2741C>T