Canonical Allele Identifier: PA2499230896
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010510
ClinVar RCV Id: RCV001308150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Phe304Leu
CA339845305
NM_000310.4:c.912C>G
CA339845306
NM_000310.4:c.912C>A
CA339845311
NM_000310.4:c.910T>C