Canonical Allele Identifier: PA916043946
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56175
ClinVar RCV Id: RCV000049586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350624.1:p.His39Gln
CA263468
NM_001363695.2:c.117T>A
CA339850666
NM_001363695.2:c.117T>G