ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976509
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_006484.2:p.Arg63Cys
CA274758
NM_006493.4:c.187C>T