Canonical Allele Identifier: PA2825115721
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 978124
ClinVar RCV Id: RCV001256066 RCV001879952
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Cys6Ser
CA789860
NM_000310.4:c.17G>C
CA339850858
NM_000310.4:c.16T>A