ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827588757
Gene: PEX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194614
ClinVar RCV Id:
RCV000175024
RCV000329888
RCV000660592
RCV001046733
RCV002516657
RCV003947478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338053.1:p.Ser568Asn
CA240687
NM_001351124.3:c.1703G>A