ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830503045
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471522
ClinVar RCV Id:
RCV000556602
RCV000596912
RCV003343915
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg3870His
CA4924299
NM_201383.3:c.11609G>A