ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244502
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196844
ClinVar RCV Id:
RCV000712767
RCV001087645
RCV002516748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala3163Thr
CA244496
NM_201383.3:c.9487G>A