ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573270791
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1450044
ClinVar RCV Id:
RCV001989946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Tyr223His
CA392972382
NM_017882.3:c.667T>C