Canonical Allele Identifier: PA916043972
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196249
ClinVar RCV Id: RCV000625813 RCV000724058 RCV002516724 RCV001252359 RCV003235097
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Asn110Ser
CA243138
NM_001363695.2:c.329A>G