ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729559
Gene: CLN8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001054575
ClinVar Variation:
850413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Glu167Lys
CA369953687
NM_018941.4:c.499G>A