Canonical Allele Identifier: PA2580475051
Gene: PLEKHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2340688
ClinVar RCV Id: RCV004187504
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_115505.2:p.Pro8Leu
CA337880334
NM_032129.3:c.23C>T