ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313860
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205124
ClinVar RCV Id:
RCV000187047
RCV001058811
RCV001729445
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.1:p.Ser39Trp
CA313858
NM_006493.2:c.116C>G