ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499283948
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1216210
ClinVar RCV Id:
RCV001587766
RCV001866195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Val115Met
CA7630619
NM_017882.3:c.343G>A