ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244579
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196853
ClinVar RCV Id:
RCV000540878
RCV000725165
RCV002516749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala4349Thr
CA244577
NM_201379.3:c.13045G>A