ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830492235
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282326
ClinVar RCV Id:
RCV000271394
RCV000702838
RCV001331247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg2342Gln
CA4925751
NM_201381.3:c.7025G>A