Canonical Allele Identifier: PA2828239712
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_001354481.1:p.Pro8Leu
CA337880334
NM_001367552.1:c.23C>T