Canonical Allele Identifier: PA658799979
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 533951
ClinVar RCV Id: RCV000641284 RCV002263876 RCV004025617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Leu292Ser
CA789544
NM_000310.4:c.875T>C