ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452853
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420301
ClinVar RCV Id:
RCV000477996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Arg250Gly
CA16619998
NM_017882.3:c.748C>G