ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201494
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958786.1:p.Arg746His
CA201489
NM_201384.3:c.2237G>A