ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741851939
Gene: PEX1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001269606.1:p.Gln529Ter
NM_001282677.2:c.1585C>T