ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502195
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514034
ClinVar RCV Id:
RCV000614106
RCV001065625
RCV003129937
RCV004024970
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala3060Asp
CA4925052
NM_201383.3:c.9179C>A