Canonical Allele Identifier: PA2825805229
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56144
ClinVar RCV Id: RCV000049554
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Trp38Cys
CA263461
NM_001142604.2:c.114G>T
CA339850672
NM_001142604.2:c.114G>C