Canonical Allele Identifier: PA2825805425
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56214
ClinVar RCV Id: RCV000049625 RCV000726872 RCV003317068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Tyr144His
CA263546
NM_001142604.2:c.430T>C