ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830478863
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
596318
ClinVar RCV Id:
RCV000732108
RCV001855675
RCV004535853
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg2291Gln
CA4925810
NM_201378.4:c.6872G>A