ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501200
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471631
ClinVar RCV Id:
RCV000536622
RCV000593069
RCV002530083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2143His
CA4926003
NM_201383.3:c.6428G>A