Canonical Allele Identifier: PA202544
Gene: PLEC HGNC NCBI

Linked Data

ClinVar Variation Id: 196716
ClinVar RCV Id: RCV000177598 RCV000712756 RCV001086675 RCV004537437
ClinVar Variation Id: 2019357
ClinVar RCV Id: RCV002871046
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000436.2:p.Ala2450Thr
CA202537
NM_000445.4:c.7348G>A
CA2580078728
NM_000445.4:c.7347_7348delinsTA