Canonical Allele Identifier: PA2825116086
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1396426
ClinVar RCV Id: RCV001919963
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Tyr185His
CA339847873
NM_000310.4:c.553T>C