ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244300
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196822
ClinVar RCV Id:
RCV000177693
RCV000785606
RCV001080318
RCV000725505
RCV004528946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg2662Gln
CA244298
NM_201379.3:c.7985G>A