ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244093
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196764
ClinVar RCV Id:
RCV000177628
RCV000785605
RCV001086527
RCV001704846
RCV002516745
RCV004537442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala1792Val
CA244092
NM_201381.3:c.5375C>T