ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825174450
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471629
ClinVar RCV Id:
RCV000543341
RCV000727828
RCV001335327
RCV004543192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu2142Lys
CA4926031
NM_000445.4:c.6424G>A