ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916019016
Gene: PEX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001287718.1:p.Ser626Asn
CA240687
NM_001300789.1:c.1877G>A