ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573202961
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1519648
ClinVar RCV Id:
RCV002043751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Val1050Ile
CA5495400
NM_001346440.2:c.3148G>A