ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830497216
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_958784.1:p.Lys2704Thr
CA4925417
NM_201382.4:c.8111A>C