ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669643
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000517970
RCV000558676
RCV000727764
ClinVar Variation:
448080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg3145Gln
CA4925105
NM_201380.4:c.9434G>A