ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830485494
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283645
ClinVar RCV Id:
RCV000328457
RCV000545783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Asp2238Asn
CA4925865
NM_201379.3:c.6712G>A