Canonical Allele Identifier: PA247960
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199009
ClinVar RCV Id: RCV000515384 RCV000435004 RCV002317064 RCV001252358 RCV001706153 RCV003955098
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Ile302Val
CA247958
NM_000310.4:c.904A>G