ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826665896
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269607.1:p.Ala723Asp
CA220978
NM_001282678.2:c.2168C>A