ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244008
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196752
ClinVar RCV Id:
RCV000554395
RCV000724990
RCV002517719
RCV004537440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2183Gln
CA244002
NM_201383.3:c.6548G>A