ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580157103
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2085994
ClinVar RCV Id:
RCV003005403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165558.2:p.Leu93Pro
CA371557699
NM_001172087.2:c.278T>C