ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828532852
Gene: PEX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281738
ClinVar RCV Id:
RCV000307470
RCV001087319
RCV003955435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361577.1:p.Arg356Gln
CA6426380
NM_001374648.2:c.1067G>A