ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA258072
Gene: ALDH7A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001188306.1:p.Glu399Gln
NM_001201377.2:c.1195G>C