ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830494279
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2953284
ClinVar RCV Id:
RCV003810402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Glu4378Lys
CA4923875
NM_201381.3:c.13132G>A