ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913193705
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000457.1:p.Ala428Val
CA4341445
NM_000466.3:c.1283C>T