ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658825389
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553649
ClinVar RCV Id:
RCV000669145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Glu1194del
CA593780446
NM_000124.4:c.3579_3581del