ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645484412
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288967
ClinVar RCV Id:
RCV000307135
RCV000364264
RCV000513602
RCV000397087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Phe1217Cys
CA5495307
NM_000124.4:c.3650T>G