ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830507040
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284790
ClinVar RCV Id:
RCV000270984
RCV001079482
RCV000537651
RCV004535330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Glu3240Lys
CA4924877
NM_201384.3:c.9718G>A