ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830502755
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Ala3570Val
CA4924560
NM_201383.3:c.10709C>T