ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA249455
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000436.2:p.Gln893_Ala895del
CA249447
NM_000445.4:c.2677_2685del