ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478039
Gene: PEX12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285542
ClinVar RCV Id:
RCV000275125
RCV001080036
RCV002521937
RCV004547702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000277.1:p.Arg151His
CA8504906
NM_000286.3:c.452G>A