ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830505663
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
496988
ClinVar RCV Id:
RCV000594805
RCV001485099
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg2013Gln
CA4926132
NM_201384.3:c.6038G>A