ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830485169
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Gln2084Arg
CA4926043
NM_201379.3:c.6251A>G