ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729010
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
938443
ClinVar RCV Id:
RCV001207661
RCV002348678
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Ile183Val
CA7630537
NM_017882.3:c.547A>G