ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028820
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300091
ClinVar RCV Id:
RCV000293985
RCV000346592
RCV000385141
RCV002520599
RCV002520598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Pro301Ser
CA5496417
NM_001346440.2:c.901C>T