ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028894
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300051
ClinVar RCV Id:
RCV000264621
RCV000318342
RCV000375317
RCV000994389
RCV002520594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Asn1131Asp
CA5495358
NM_001346440.2:c.3391A>G