ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403104
Gene: PEX6
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000278.3:p.Ala549Val
NM_000287.4:c.1646C>T