ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825174692
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
596318
ClinVar RCV Id:
RCV000732108
RCV001855675
RCV004535853
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg2332Gln
CA4925810
NM_000445.4:c.6995G>A