ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502989
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379928
ClinVar RCV Id:
RCV000441095
RCV000793945
RCV001270892
RCV003985085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg3817His
CA4924351
NM_201383.3:c.11450G>A