ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104192
Gene: CLN8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56714
ClinVar RCV Id:
RCV000050127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061764.2:p.Gln194Arg
CA264180
NM_018941.4:c.581A>G