ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828215213
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2569
ClinVar RCV Id:
RCV000002678
RCV001039257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.Cys77Tyr
CA252336
NM_001366624.2:c.230G>A