ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028856
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193557
ClinVar RCV Id:
RCV000173643
RCV000259781
RCV000318448
RCV000354594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Arg683Gln
CA239092
NM_001346440.2:c.2048G>A