ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830500752
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
515703
ClinVar RCV Id:
RCV001366050
RCV001712678
RCV002528675
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg1801Cys
CA4926376
NM_201383.3:c.5401C>T