ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830497847
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423958
ClinVar RCV Id:
RCV000551666
RCV001696894
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Val3281Met
CA4924832
NM_201382.4:c.9841G>A