Canonical Allele Identifier: PA2825805504
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56218
ClinVar RCV Id: RCV000049629
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Trp193Arg
CA263554
NM_001142604.2:c.577T>C
CA339845435
NM_001142604.2:c.577T>A