ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830494235
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Thr4334Ile
CA4923903
NM_201381.3:c.13001C>T