ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645484274
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300052
ClinVar RCV Id:
RCV000313595
RCV000348563
RCV000403215
RCV002522159
RCV004021475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Asn1064Ser
CA5495391
NM_000124.4:c.3191A>G