ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825183345
Gene: PEX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1063322
ClinVar RCV Id:
RCV001373147
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Arg626Thr
CA368184724
NM_000466.3:c.1877G>C