ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830491287
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
510673
ClinVar RCV Id:
RCV000601864
RCV001203650
RCV002529607
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Gln1583Glu
CA4926523
NM_201381.3:c.4747C>G