Canonical Allele Identifier: PA916043975
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8899
ClinVar RCV Id: RCV000009450 RCV000188724 RCV000581618 RCV000623227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.Arg122Trp
CA316952
NM_001363695.2:c.364A>T