ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830480981
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_958780.1:p.Arg3799His
CA4924351
NM_201378.4:c.11396G>A