ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830478823
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471637
ClinVar RCV Id:
RCV000529959
RCV000609012
RCV000727816
RCV004024181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Ala2267Thr
CA4925834
NM_201378.4:c.6799G>A