ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830479430
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
508466
ClinVar RCV Id:
RCV000605089
RCV001429547
RCV003343942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Lys2690Thr
CA4925417
NM_201378.4:c.8069A>C