ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976543
Gene: CLN5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000414655
RCV000686723
RCV001275303
ClinVar Variation:
373760
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Gly142Arg
CA7007202
NM_006493.4:c.424G>C