ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645492181
Gene: ALDH7A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001173.2:p.Ala177Pro
NM_001182.5:c.529G>C