ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313851
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205121
ClinVar RCV Id:
RCV000187044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.1:p.Arg2Pro
CA313849
NM_006493.2:c.5G>C