Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2580218033

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2153519

ClinVar RCV Id: RCV003077656

ClinVar Variation Id: 3015048

ClinVar RCV Id: RCV003870655

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Asn110Lys	CA339849024 NM_001363695.2:c.330T>G CA339849025 NM_001363695.2:c.330T>A