ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830480303
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497088
ClinVar RCV Id:
RCV000594923
RCV002530960
RCV000805840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg3285Gln
CA4924820
NM_201378.4:c.9854G>A