ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830479591
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958780.1:p.Arg2817Gln
CA4925290
NM_201378.4:c.8450G>A