Canonical Allele Identifier: PA2826105148
Gene: PEX2 HGNC NCBI
ClinVar Allele:
544757
ClinVar RCV:
RCV000669443
ClinVar Variation:
553907
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165557.2:p.Asp234_Thr236delinsAla
CA658821643
NM_001172086.2:c.701_706del