ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573270785
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1690751
ClinVar RCV Id:
RCV002253169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Arg149Pro
CA392973387
NM_017882.3:c.446G>C