ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828215310
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
527752
ClinVar RCV Id:
RCV000632713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.Phe167Ser
CA388309412
NM_001366624.2:c.500T>C