ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249450
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Gln844_Ala846del
CA249447
NM_201379.3:c.2530_2538del