Canonical Allele Identifier: PA263489
Gene: PPT1 HGNC NCBI
ClinVar RCV:
RCV000049597
ClinVar Variation:
56186
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Gln91_Cys96delinsPhe
CA263487
NM_000310.4:c.271_287delinsTT