ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111598
Gene: PEX12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2040972
ClinVar RCV Id:
RCV002890879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000277.1:p.Leu247Pro
CA399137482
NM_000286.3:c.740T>C