ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830500041
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290467
ClinVar RCV Id:
RCV000278926
RCV000793112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg1182Gln
CA4927030
NM_201383.3:c.3545G>A