ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123380
Gene: PEX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073336.1:p.Glu55Lys
CA123379
NM_001079867.1:c.163G>A