ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119071
Gene: PEX12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7779
ClinVar RCV Id:
RCV000008221
RCV000675048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000277.1:p.Leu317Phe
CA119070
NM_000286.3:c.949C>T