ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313802
Gene: CLN3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000187031
RCV000689160
RCV001785503
ClinVar Variation:
205110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035897.1:p.Ala158Thr
CA313798
NM_001042432.2:c.472G>A