ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825175047
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514221
ClinVar RCV Id:
RCV000606327
RCV002531612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu2666Gln
CA372521170
NM_000445.4:c.7996G>C