ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830501575
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471645
ClinVar RCV Id:
RCV000533256
RCV000601732
RCV003133344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Arg2461Cys
CA4925674
NM_201383.3:c.7381C>T