ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826104927
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2090140
ClinVar RCV Id:
RCV003003330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165557.2:p.Asp122Val
CA371557502
NM_001172086.2:c.365A>T