ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741864611
Gene: PEX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338067.1:p.Val50Gly
CA383708354
NM_001351138.2:c.149T>G