ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028847
Gene: ERCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000277469
RCV000332639
RCV000368604
RCV000944209
ClinVar Variation:
300077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Thr587Met
CA5495877
NM_001346440.2:c.1760C>T