ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028860
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287219
ClinVar RCV Id:
RCV000358004
RCV000263243
RCV000304579
RCV000725973
RCV004535380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Thr699Met
CA5495770
NM_001346440.2:c.2096C>T