ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487927
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2046267
ClinVar RCV Id:
RCV002913572
RCV003134531
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Arg4430His
CA4923831
NM_201379.3:c.13289G>A