ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249448
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958782.1:p.Gln1003_Ala1005del
CA249447
NM_201380.4:c.3007_3015del