ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830503048
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958785.1:p.Asp3872Asn
CA4924298
NM_201383.3:c.11614G>A