ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916013795
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
502697
ClinVar RCV Id:
RCV000597351
RCV002272300
RCV002476342
RCV002532681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Asp887Asn
CA4340856
NM_001282678.2:c.2659G>A