ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA244277
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196819
ClinVar RCV Id:
RCV000177690
RCV000537688
RCV001704847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg3504Cys
CA244271
NM_201383.3:c.10510C>T