ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830500805
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282455
ClinVar RCV Id:
RCV000358773
RCV000560655
RCV002518854
RCV004543004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala1845Thr
CA4926338
NM_201383.3:c.5533G>A