ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499245400
Gene: PEX1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001269607.1:p.Glu983Ala
NM_001282678.2:c.2948A>C