ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825459999
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
139589
ClinVar RCV Id:
RCV000128530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073336.2:p.Cys247Arg
CA163284
NM_001079867.2:c.739T>C