ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976570
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205137
ClinVar RCV Id:
RCV000187061
RCV001239747
RCV001272146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Ala163Thr
CA313897
NM_006493.4:c.487G>A