ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825173415
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448062
ClinVar RCV Id:
RCV000876023
RCV000517992
RCV001722437
RCV004541613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Glu1290Lys
CA4926928
NM_000445.4:c.3868G>A