ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976624
Gene: CLN5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002675
RCV000989152
ClinVar Variation:
2566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Asp230Asn
CA252327
NM_006493.4:c.688G>A