ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313725
Gene: CLN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205095
ClinVar RCV Id:
RCV000187016
RCV000504655
RCV000812919
RCV001729444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000077.1:p.Val330Ile
CA313722
NM_000086.2:c.988G>A