ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA314022
Gene: CLN8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205196
ClinVar RCV Id:
RCV000187129
RCV000768188
RCV001272624
RCV002247602
RCV002408830
RCV001080174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Pro260Leu
CA314020
NM_018941.4:c.779C>T