ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830494287
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Thr4384Met
CA4923869
NM_201381.3:c.13151C>T