ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830502561
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
387299
ClinVar RCV Id:
RCV000430172
RCV000727107
RCV000807313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala3390Val
CA4924737
NM_201383.3:c.10169C>T