ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830495370
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958784.1:p.Pro1123Leu
CA4927108
NM_201382.4:c.3368C>T