ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247304
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198573
ClinVar RCV Id:
RCV000187108
RCV000515242
RCV000724552
RCV001080133
RCV002054140
RCV002314666
RCV003398902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Ser308Thr
CA247303
NM_017882.3:c.923G>C