ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313896
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205136
ClinVar RCV Id:
RCV000187060
RCV000686964
RCV001785511
RCV002516985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.1:p.Gln18Lys
CA313894
NM_006493.2:c.52C>A