ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580423172
Gene: CLN8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2146768
ClinVar RCV Id:
RCV003076846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Leu153Val
CA369953607
NM_018941.4:c.457C>G