ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830482669
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501788
ClinVar RCV Id:
RCV000591157
RCV002062088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Glu494Lys
CA4927928
NM_201379.3:c.1480G>A