ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830491612
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499604
ClinVar RCV Id:
RCV000597533
RCV000795645
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg1846Trp
CA4926290
NM_201381.3:c.5536C>T