ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830479920
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_958780.1:p.Ala3042Asp
CA4925052
NM_201378.4:c.9125C>A