ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830504676
Gene: PLEC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290467
ClinVar RCV Id:
RCV000278926
RCV000793112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg1178Gln
CA4927030
NM_201384.3:c.3533G>A