ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658811954
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499219
ClinVar RCV Id:
RCV000593349
RCV001860181
RCV004024759
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Arg2118Gln
CA4926177
NM_201380.4:c.6353G>A