Canonical Allele Identifier: PA915979773
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56198
ClinVar RCV Id: RCV000049609 RCV000188719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Gln74Glu
CA263516
NM_001142604.2:c.220C>G