ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249454
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Gln870_Ala872del
CA249447
NM_201383.3:c.2608_2616del