ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830500244
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
429481
ClinVar RCV Id:
RCV000493043
RCV000727166
RCV001202176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg1377Trp
CA4926764
NM_201383.3:c.4129C>T