ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580311828
Gene: PEX16
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1949051
ClinVar RCV Id:
RCV002675994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004804.2:p.Phe332_Tyr333del
CA5959718
NM_004813.4:c.994_999del