ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830490711
Gene: PLEC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958783.1:p.Arg1064His
CA4927135
NM_201381.3:c.3191G>A