ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104210
Gene: CLN8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196493
ClinVar RCV Id:
RCV000187131
RCV000515342
RCV000670572
RCV000723601
RCV001084070
RCV002252020
RCV002408767
RCV004537428
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Glu269Val
CA243465
NM_018941.4:c.806A>T