ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828215285
Gene: CLN5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000049953
RCV001044966
ClinVar Variation:
56540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353553.1:p.Leu149Pro
CA263901
NM_001366624.2:c.446T>C