ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242925
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196105
ClinVar RCV Id:
RCV000176847
RCV000547452
RCV000724976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Val1248Gly
CA242919
NM_201383.3:c.3743T>G