ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658799988
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496904
ClinVar RCV Id:
RCV000591568
RCV003313967
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Pro934Thr
CA376719102
NM_000124.4:c.2800C>A