ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976580
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553559
ClinVar RCV Id:
RCV000669036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Ala185_Ile187del
CA658823724
NM_006493.4:c.553_561del