ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408718
Gene: PEX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000457.1:p.Thr1189Ile
NM_000466.3:c.3566C>T