ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104259
Gene: CLN8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000050122
RCV000265266
RCV002490626
RCV002513704
RCV003323381
ClinVar Variation:
56709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Leu16Met
CA264170
NM_018941.4:c.46C>A