ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830484947
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958781.1:p.Val1968Met
CA4926163
NM_201379.3:c.5902G>A