ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915976674
Gene: CLN5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000002679
RCV000493479
RCV001318349
ClinVar Variation:
2570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006484.2:p.Tyr325Cys
CA252339
NM_006493.4:c.974A>G