Canonical Allele Identifier: PA916043978
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56194
ClinVar RCV Id: RCV000049605 RCV003226183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Ser138Leu
CA263506
NM_001363695.2:c.413C>T