ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658804930
Gene: PEX6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499214
ClinVar RCV Id:
RCV000597455
RCV001080745
RCV002532450
RCV004553317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000278.3:p.Glu592Lys
CA3811221
NM_000287.4:c.1774G>A