ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028829
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000265852
RCV000318351
RCV000376746
RCV000943556
ClinVar Variation:
300084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Gly410Asp
CA5496364
NM_001346440.2:c.1229G>A