ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830484882
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471617
ClinVar RCV Id:
RCV000533391
RCV000727803
RCV004024180
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg1938His
CA4926205
NM_201379.3:c.5813G>A