ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828531927
Gene: PEX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420777
ClinVar RCV Id:
RCV000480471
RCV001856846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361575.1:p.Ser563Leu
CA6426593
NM_001374646.1:c.1688C>T