ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825173471
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448065
ClinVar RCV Id:
RCV000518288
RCV000726855
RCV001081655
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Arg1347Cys
CA4926829
NM_000445.4:c.4039C>T