Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2829923522

Gene: CLN8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1686574

ClinVar RCV Id: RCV002247087

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_061764.2:p.Pro286_Ter287insTyrLeuLeuGlnProGlyLeuArgGlyGlySerArgAlaGlyThrProIleLeuGlySerProAlaAsnAspGlyPhe	CA369954480 NM_018941.4:c.861G>C CA369954481 NM_018941.4:c.861G>T