ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665791
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1494928
ClinVar RCV Id:
RCV002015133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Arg590Cys
CA4341140
NM_001282678.2:c.1768C>T