Canonical Allele Identifier: PA2825116267
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2501065
ClinVar RCV Id: RCV003226662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Gly306_Ter307insLeuAsnProTyrSerSerGln
CA339845289
NM_000310.4:c.920G>T