ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830477246
Gene: PLEC
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000527679
RCV000725097
RCV002518856
ClinVar Variation:
282493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Glu1605Lys
CA4926521
NM_201378.4:c.4813G>A