ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580111593
Gene: PEX12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2080736
ClinVar RCV Id:
RCV003002154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000277.1:p.Val243Ile
CA399137506
NM_000286.3:c.727G>A