ClinGen Allele Registry
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Canonical Allele Identifier:
PA343129
Gene: PEX7
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000279.1:p.His285Arg
NM_000288.4:c.854A>G