Canonical Allele Identifier: PA263612
Gene: CLN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56248
ClinVar RCV Id: RCV000049660
ClinVar Variation Id: 660322
ClinVar RCV Id: RCV000817490
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035897.1:p.Gln352His
CA263608
NM_001042432.2:c.1056G>C
CA395343889
NM_001042432.2:c.1056G>T