ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139689173
Gene: ALDH7A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001173.2:p.Thr412Ile
CA360723268
NM_001182.5:c.1235C>T