ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830500187
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448065
ClinVar RCV Id:
RCV000518288
RCV000726855
RCV001081655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg1324Cys
CA4926829
NM_201383.3:c.3970C>T