ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830475620
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538916
ClinVar RCV Id:
RCV000648457
RCV001288678
RCV002530502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg573Gln
CA4927862
NM_201378.4:c.1718G>A