ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830477307
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385087
ClinVar RCV Id:
RCV000419056
RCV001861552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala1646Thr
CA4926478
NM_201378.4:c.4936G>A