ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915959306
Gene: PEX12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000974679
RCV001575602
RCV001805945
ClinVar Variation:
791675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000277.1:p.Leu245Ile
CA8504851
NM_000286.3:c.733T>A