ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580157161
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1965300
ClinVar RCV Id:
RCV002726704
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165558.2:p.Ser270Thr
CA4788650
NM_001172087.2:c.809G>C