ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202137
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196106
ClinVar RCV Id:
RCV000176848
RCV000874343
RCV001288289
RCV002517703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg1193Leu
CA202134
NM_201378.4:c.3578G>T