ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817430
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522701
ClinVar RCV Id:
RCV000625854
RCV000799881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Glu227Lys
CA7630488
NM_017882.3:c.679G>A