Canonical Allele Identifier: PA2828103447
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954949
ClinVar RCV Id: RCV001227499
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Ser269Phe
CA20999062
NM_001363695.2:c.806C>T