ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244497
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196844
ClinVar RCV Id:
RCV000712767
RCV001087645
RCV002516748
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Ala3127Thr
CA244496
NM_201381.3:c.9379G>A