Canonical Allele Identifier: PA2825052881
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 527729
ClinVar RCV Id: RCV000632678 RCV001119056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000077.1:p.Arg250Trp
CA7980837
NM_000086.2:c.748C>T