ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825173821
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282493
ClinVar RCV Id:
RCV000527679
RCV000725097
RCV002518856
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu1646Lys
CA4926521
NM_000445.4:c.4936G>A