ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830506310
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
385968
ClinVar RCV Id:
RCV000424970
RCV001062533
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg2547Trp
CA4925558
NM_201384.3:c.7639C>T