ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645458428
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000556369
RCV000727773
RCV002526039
ClinVar Variation:
426994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Glu2818Lys
CA4925442
NM_201380.4:c.8452G>A