ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189318
Gene: PEX1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001269607.1:p.Thr981Lys
NM_001282678.2:c.2942C>A