ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828215277
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373760
ClinVar RCV Id:
RCV000414655
RCV000686723
RCV001275303
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.Gly142Arg
CA7007202
NM_001366624.2:c.424G>C