Canonical Allele Identifier: PA247058
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198413
ClinVar RCV Id: RCV000179745 RCV000670818
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Ser241Leu
CA247056
NM_000310.4:c.722C>T