ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501816
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283947
ClinVar RCV Id:
RCV000314788
RCV000554534
RCV000725362
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2693His
CA4925429
NM_201383.3:c.8078G>A