Canonical Allele Identifier: PA2825116104
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1691870
ClinVar RCV Id: RCV002255246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Tyr195His
CA339847740
NM_000310.4:c.583T>C