ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825119956
Gene: PEX2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1506983
ClinVar RCV Id:
RCV002038242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000309.2:p.Ile83Thr
CA371557770
NM_000318.3:c.248T>C