ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830487957
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498663
ClinVar RCV Id:
RCV000591991
RCV000803446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Ala4465Thr
CA4923803
NM_201379.3:c.13393G>A