ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829667582
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2172922
ClinVar RCV Id:
RCV002581650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Ile316Ser
CA252177674
NM_006493.4:c.947T>G