ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976637
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000161918
RCV002515118
ClinVar Variation:
183049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Ser263Asn
CA273763
NM_006493.4:c.788G>A