ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830493796
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448049
ClinVar RCV Id:
RCV000516968
RCV000726188
RCV002060251
RCV004537855
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg3833His
CA4924303
NM_201381.3:c.11498G>A