ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139712658
Gene: CLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
966545
ClinVar RCV Id:
RCV001241255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Ile120Val
CA388308673
NM_006493.4:c.358A>G