ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828215194
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190222
ClinVar RCV Id:
RCV000170441
RCV001054069
RCV002321680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.Arg63Cys
CA274758
NM_001366624.2:c.187C>T