ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244299
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000177693
RCV000725505
RCV000785606
RCV001080318
RCV004528946
ClinVar Variation:
196822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg2652Gln
CA244298
NM_201381.3:c.7955G>A